Canonical Allele Identifier: CA2690288253

Gene: TMC1

Linked Data

• gnomAD v4: 9-72789261-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72789264del , CM000671.2:g.72789264del	GRCh38
NC_000009.11:g.75404180del , CM000671.1:g.75404180del	GRCh37
NC_000009.10:g.74594000del	NCBI36
NG_008213.1:g.272464del

Transcript Alleles

HGVS	Amino-acid change
ENST00000297784.10:c.1171del MANE Select	ENSP00000297784.6:p.Gln391ArgfsTer19
ENST00000644967.1:c.733del	ENSP00000496159.1:p.Gln245ArgfsTer19
ENST00000645053.1:c.733del	ENSP00000493838.1:p.Gln245ArgfsTer19
ENST00000645208.2:c.1171del	ENSP00000494684.1:p.Gln391ArgfsTer19
ENST00000645773.1:c.1045del	ENSP00000493698.1:p.Gln349ArgfsTer19
ENST00000645787.1:n.1211del
ENST00000646619.1:c.733del	ENSP00000493726.1:p.Gln245ArgfsTer19
ENST00000650689.1:n.1469del
ENST00000651183.1:c.733del	ENSP00000498723.1:p.Gln245ArgfsTer19
ENST00000297784.9:c.1171del	ENSP00000297784.5:p.Gln391ArgfsTer19
ENST00000340019.4:c.1171del	ENSP00000341433.3:p.Gln391ArgfsTer19
NM_138691.2:c.1171del	NP_619636.2:p.Gln391ArgfsTer19
XM_011518213.1:c.1759del	XP_011516515.1:p.Gln587ArgfsTer19
XM_017014256.1:c.1174del	XP_016869745.1:p.Gln392ArgfsTer19
NM_138691.3:c.1171del MANE Select	NP_619636.2:p.Gln391ArgfsTer19