Canonical Allele Identifier: CA2520668182

Gene: TMC1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72700564_72700565insGTATC , CM000671.2:g.72700564_72700565insGTATC	GRCh38
NC_000009.11:g.75315480_75315481insGTATC , CM000671.1:g.75315480_75315481insGTATC	GRCh37
NC_000009.10:g.74505300_74505301insGTATC	NCBI36
NG_008213.1:g.183764_183765insGTATC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.283_284insGTATC MANE Select	ENSP00000297784.6:p.Glu95GlyfsTer4
ENST00000644967.1:c.-77+5850_-77+5851insGTATC	ENSP00000496159.1:n.-77+5850_-77+5851insGTATC
ENST00000645053.1:c.-77+5850_-77+5851insGTATC	ENSP00000493838.1:n.-77+5850_-77+5851insGTATC
ENST00000645208.2:c.283_284insGTATC	ENSP00000494684.1:p.Glu95GlyfsTer4
ENST00000645773.1:c.236+5850_236+5851insGTATC	ENSP00000493698.1:n.236+5850_236+5851insGTATC
ENST00000645787.1:n.323_324insGTATC
ENST00000646244.1:n.733_734insGTATC
ENST00000646619.1:c.-77+5850_-77+5851insGTATC	ENSP00000493726.1:n.-77+5850_-77+5851insGTATC
ENST00000650689.1:n.660+5850_660+5851insGTATC
ENST00000651183.1:c.-77+5850_-77+5851insGTATC	ENSP00000498723.1:n.-77+5850_-77+5851insGTATC
ENST00000297784.9:c.283_284insGTATC	ENSP00000297784.5:p.Glu95GlyfsTer4
ENST00000340019.4:c.283_284insGTATC	ENSP00000341433.3:p.Glu95GlyfsTer4
NM_138691.2:c.283_284insGTATC	NP_619636.2:p.Glu95GlyfsTer4
XM_011518213.1:c.871_872insGTATC	XP_011516515.1:p.Glu291GlyfsTer4
XM_017014256.1:c.286_287insGTATC	XP_016869745.1:p.Glu96GlyfsTer4
NM_138691.3:c.283_284insGTATC MANE Select	NP_619636.2:p.Glu95GlyfsTer4