Canonical Allele Identifier: CA2784610499

Gene: TMC1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72700717_72700718insGT , CM000671.2:g.72700717_72700718insGT	GRCh38
NC_000009.11:g.75315633_75315634insGT , CM000671.1:g.75315633_75315634insGT	GRCh37
NC_000009.10:g.74505453_74505454insGT	NCBI36
NG_008213.1:g.183917_183918insGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.362+74_362+75insGT MANE Select	ENSP00000297784.6:n.362+74_362+75insGT
ENST00000644967.1:c.-77+6003_-77+6004insGT	ENSP00000496159.1:n.-77+6003_-77+6004insGT
ENST00000645053.1:c.-77+6003_-77+6004insGT	ENSP00000493838.1:n.-77+6003_-77+6004insGT
ENST00000645208.2:c.362+74_362+75insGT	ENSP00000494684.1:n.362+74_362+75insGT
ENST00000645773.1:c.236+6003_236+6004insGT	ENSP00000493698.1:n.236+6003_236+6004insGT
ENST00000645787.1:n.402+74_402+75insGT
ENST00000646244.1:n.886_887insGT
ENST00000646619.1:c.-77+6003_-77+6004insGT	ENSP00000493726.1:n.-77+6003_-77+6004insGT
ENST00000650689.1:n.660+6003_660+6004insGT
ENST00000651183.1:c.-77+6003_-77+6004insGT	ENSP00000498723.1:n.-77+6003_-77+6004insGT
ENST00000297784.9:c.362+74_362+75insGT	ENSP00000297784.5:n.362+74_362+75insGT
ENST00000340019.4:c.362+74_362+75insGT	ENSP00000341433.3:n.362+74_362+75insGT
NM_138691.2:c.362+74_362+75insGT	NP_619636.2:n.362+74_362+75insGT
XM_011518213.1:c.950+74_950+75insGT	XP_011516515.1:n.950+74_950+75insGT
XM_017014256.1:c.365+74_365+75insGT	XP_016869745.1:n.365+74_365+75insGT
NM_138691.3:c.362+74_362+75insGT MANE Select	NP_619636.2:n.362+74_362+75insGT