Canonical Allele Identifier: CA2690289959

Gene: TMC1

Linked Data

• gnomAD v4: 9-72821013-C-CCT

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72821014_72821015dup , CM000671.2:g.72821014_72821015dup	GRCh38
NC_000009.11:g.75435930_75435931dup , CM000671.1:g.75435930_75435931dup	GRCh37
NC_000009.10:g.74625750_74625751dup	NCBI36
NG_008213.1:g.304214_304215dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.1936_1937dup MANE Select	ENSP00000297784.6:p.Ser647CysfsTer9
ENST00000644967.1:c.*376_*377dup	ENSP00000496159.1:n.*376_*377dup
ENST00000645053.1:c.1258-5855_1258-5854dup	ENSP00000493838.1:n.1258-5855_1258-5854dup
ENST00000645208.2:c.1936_1937dup	ENSP00000494684.1:p.Ser647CysfsTer9
ENST00000645773.1:c.1810_1811dup	ENSP00000493698.1:p.Ser605CysfsTer9
ENST00000645787.1:n.2079_2080dup
ENST00000646619.1:c.1498_1499dup	ENSP00000493726.1:p.Ser501CysfsTer9
ENST00000651183.1:c.1498_1499dup	ENSP00000498723.1:p.Ser501CysfsTer9
ENST00000297784.9:c.1936_1937dup	ENSP00000297784.5:p.Ser647CysfsTer9
ENST00000340019.4:c.1936_1937dup	ENSP00000341433.3:p.Ser647CysfsTer9
ENST00000469455.1:n.417_418dup
ENST00000486417.5:n.834_835dup
NM_138691.2:c.1936_1937dup	NP_619636.2:p.Ser647CysfsTer9
XM_011518213.1:c.2524_2525dup	XP_011516515.1:p.Ser843CysfsTer9
XM_017014256.1:c.1939_1940dup	XP_016869745.1:p.Ser648CysfsTer9
NM_138691.3:c.1936_1937dup MANE Select	NP_619636.2:p.Ser647CysfsTer9