Canonical Allele Identifier: CA2690290039

Gene: TMC1

Linked Data

• gnomAD v4: 9-72821191-G-GC

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72821191_72821192insC , CM000671.2:g.72821191_72821192insC	GRCh38
NC_000009.11:g.75436107_75436108insC , CM000671.1:g.75436107_75436108insC	GRCh37
NC_000009.10:g.74625927_74625928insC	NCBI36
NG_008213.1:g.304391_304392insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.2003+110_2003+111insC MANE Select	ENSP00000297784.6:n.2003+110_2003+111insC
ENST00000644967.1:c.*443+110_*443+111insC	ENSP00000496159.1:n.*443+110_*443+111insC
ENST00000645053.1:c.1258-5678_1258-5677insC	ENSP00000493838.1:n.1258-5678_1258-5677insC
ENST00000645208.2:c.2003+110_2003+111insC	ENSP00000494684.1:n.2003+110_2003+111insC
ENST00000645773.1:c.1877+110_1877+111insC	ENSP00000493698.1:n.1877+110_1877+111insC
ENST00000645787.1:n.2146+110_2146+111insC
ENST00000646619.1:c.1565+110_1565+111insC	ENSP00000493726.1:n.1565+110_1565+111insC
ENST00000651183.1:c.1565+110_1565+111insC	ENSP00000498723.1:n.1565+110_1565+111insC
ENST00000297784.9:c.2003+110_2003+111insC	ENSP00000297784.5:n.2003+110_2003+111insC
ENST00000340019.4:c.2003+110_2003+111insC	ENSP00000341433.3:n.2003+110_2003+111insC
ENST00000469455.1:n.484+110_484+111insC
ENST00000486417.5:n.901+110_901+111insC
NM_138691.2:c.2003+110_2003+111insC	NP_619636.2:n.2003+110_2003+111insC
XM_011518213.1:c.2591+110_2591+111insC	XP_011516515.1:n.2591+110_2591+111insC
XM_017014256.1:c.2006+110_2006+111insC	XP_016869745.1:n.2006+110_2006+111insC
NM_138691.3:c.2003+110_2003+111insC MANE Select	NP_619636.2:n.2003+110_2003+111insC