Transcript | cDNA | Protein | Consequence | Exon | Intron |
---|---|---|---|---|---|
ENST00000003084.6 | c.1523_1525del | p.Phe508_Gly509delinsCys | inframe_deletion | 11/27 | - |
ENST00000426809.1 | c.1433_1435del | p.Phe478_Gly479delinsCys | inframe_deletion | 10/26 | - |
ENST00000454343.1 | c.1340_1342del | p.Phe447_Gly448delinsCys | inframe_deletion | 10/26 | - |
NM_000492.4 | c.1523_1525del | p.Phe508_Gly509delinsCys | inframe_deletion | 11/27 | - |
NR_149084.1 | n.221+1138_221+1140del | - | intron_variant,non_coding_transcript_variant | - | 2/2 |