Canonical Allele Identifier: CA2690289958

Gene: TMC1

Linked Data

• gnomAD v4: 9-72821010-CTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72821011_72821012del , CM000671.2:g.72821011_72821012del	GRCh38
NC_000009.11:g.75435927_75435928del , CM000671.1:g.75435927_75435928del	GRCh37
NC_000009.10:g.74625747_74625748del	NCBI36
NG_008213.1:g.304211_304212del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.1933_1934del MANE Select	ENSP00000297784.6:p.Phe645ProfsTer18
ENST00000644967.1:c.*373_*374del	ENSP00000496159.1:n.*373_*374del
ENST00000645053.1:c.1258-5858_1258-5857del	ENSP00000493838.1:n.1258-5858_1258-5857del
ENST00000645208.2:c.1933_1934del	ENSP00000494684.1:p.Phe645ProfsTer18
ENST00000645773.1:c.1807_1808del	ENSP00000493698.1:p.Phe603ProfsTer18
ENST00000645787.1:n.2076_2077del
ENST00000646619.1:c.1495_1496del	ENSP00000493726.1:p.Phe499ProfsTer18
ENST00000651183.1:c.1495_1496del	ENSP00000498723.1:p.Phe499ProfsTer18
ENST00000297784.9:c.1933_1934del	ENSP00000297784.5:p.Phe645ProfsTer18
ENST00000340019.4:c.1933_1934del	ENSP00000341433.3:p.Phe645ProfsTer18
ENST00000469455.1:n.414_415del
ENST00000486417.5:n.831_832del
NM_138691.2:c.1933_1934del	NP_619636.2:p.Phe645ProfsTer18
XM_011518213.1:c.2521_2522del	XP_011516515.1:p.Phe841ProfsTer18
XM_017014256.1:c.1936_1937del	XP_016869745.1:p.Phe646ProfsTer18
NM_138691.3:c.1933_1934del MANE Select	NP_619636.2:p.Phe645ProfsTer18