Canonical Allele Identifier: CA2514979582

Gene: TMC1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72700566_72700567insATAT , CM000671.2:g.72700566_72700567insATAT	GRCh38
NC_000009.11:g.75315482_75315483insATAT , CM000671.1:g.75315482_75315483insATAT	GRCh37
NC_000009.10:g.74505302_74505303insATAT	NCBI36
NG_008213.1:g.183766_183767insATAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.285_286insATAT MANE Select	ENSP00000297784.6:p.Leu96IlefsTer4
ENST00000644967.1:c.-77+5852_-77+5853insATAT	ENSP00000496159.1:n.-77+5852_-77+5853insATAT
ENST00000645053.1:c.-77+5852_-77+5853insATAT	ENSP00000493838.1:n.-77+5852_-77+5853insATAT
ENST00000645208.2:c.285_286insATAT	ENSP00000494684.1:p.Leu96IlefsTer4
ENST00000645773.1:c.236+5852_236+5853insATAT	ENSP00000493698.1:n.236+5852_236+5853insATAT
ENST00000645787.1:n.325_326insATAT
ENST00000646244.1:n.735_736insATAT
ENST00000646619.1:c.-77+5852_-77+5853insATAT	ENSP00000493726.1:n.-77+5852_-77+5853insATAT
ENST00000650689.1:n.660+5852_660+5853insATAT
ENST00000651183.1:c.-77+5852_-77+5853insATAT	ENSP00000498723.1:n.-77+5852_-77+5853insATAT
ENST00000297784.9:c.285_286insATAT	ENSP00000297784.5:p.Leu96IlefsTer4
ENST00000340019.4:c.285_286insATAT	ENSP00000341433.3:p.Leu96IlefsTer4
NM_138691.2:c.285_286insATAT	NP_619636.2:p.Leu96IlefsTer4
XM_011518213.1:c.873_874insATAT	XP_011516515.1:p.Leu292IlefsTer4
XM_017014256.1:c.288_289insATAT	XP_016869745.1:p.Leu97IlefsTer4
NM_138691.3:c.285_286insATAT MANE Select	NP_619636.2:p.Leu96IlefsTer4