Canonical Allele Identifier: CA2690286350

Gene: TMC1

Linked Data

• gnomAD v4: 9-72700524-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72700525del , CM000671.2:g.72700525del	GRCh38
NC_000009.11:g.75315441del , CM000671.1:g.75315441del	GRCh37
NC_000009.10:g.74505261del	NCBI36
NG_008213.1:g.183725del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.244del MANE Select	ENSP00000297784.6:p.Glu82LysfsTer11
ENST00000644967.1:c.-77+5811del	ENSP00000496159.1:n.-77+5811del
ENST00000645053.1:c.-77+5811del	ENSP00000493838.1:n.-77+5811del
ENST00000645208.2:c.244del	ENSP00000494684.1:p.Glu82LysfsTer11
ENST00000645773.1:c.236+5811del	ENSP00000493698.1:n.236+5811del
ENST00000645787.1:n.284del
ENST00000646244.1:n.694del
ENST00000646619.1:c.-77+5811del	ENSP00000493726.1:n.-77+5811del
ENST00000650689.1:n.660+5811del
ENST00000651183.1:c.-77+5811del	ENSP00000498723.1:n.-77+5811del
ENST00000297784.9:c.244del	ENSP00000297784.5:p.Glu82LysfsTer11
ENST00000340019.4:c.244del	ENSP00000341433.3:p.Glu82LysfsTer11
NM_138691.2:c.244del	NP_619636.2:p.Glu82LysfsTer11
XM_011518213.1:c.832del	XP_011516515.1:p.Glu278LysfsTer11
XM_017014256.1:c.247del	XP_016869745.1:p.Glu83LysfsTer11
NM_138691.3:c.244del MANE Select	NP_619636.2:p.Glu82LysfsTer11