Canonical Allele Identifier: CA2579354306

Gene: TMC1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72820961_72820962del , CM000671.2:g.72820961_72820962del	GRCh38
NC_000009.11:g.75435877_75435878del , CM000671.1:g.75435877_75435878del	GRCh37
NC_000009.10:g.74625697_74625698del	NCBI36
NG_008213.1:g.304161_304162del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.1883_1884del MANE Select	ENSP00000297784.6:p.Lys628SerfsTer6
ENST00000644967.1:c.*323_*324del	ENSP00000496159.1:n.*323_*324del
ENST00000645053.1:c.1258-5908_1258-5907del	ENSP00000493838.1:n.1258-5908_1258-5907del
ENST00000645208.2:c.1883_1884del	ENSP00000494684.1:p.Lys628SerfsTer6
ENST00000645773.1:c.1757_1758del	ENSP00000493698.1:p.Lys586SerfsTer6
ENST00000645787.1:n.2026_2027del
ENST00000646619.1:c.1445_1446del	ENSP00000493726.1:p.Lys482SerfsTer6
ENST00000651183.1:c.1445_1446del	ENSP00000498723.1:p.Lys482SerfsTer6
ENST00000297784.9:c.1883_1884del	ENSP00000297784.5:p.Lys628SerfsTer6
ENST00000340019.4:c.1883_1884del	ENSP00000341433.3:p.Lys628SerfsTer6
ENST00000469455.1:n.364_365del
ENST00000486417.5:n.781_782del
NM_138691.2:c.1883_1884del	NP_619636.2:p.Lys628SerfsTer6
XM_011518213.1:c.2471_2472del	XP_011516515.1:p.Lys824SerfsTer6
XM_017014256.1:c.1886_1887del	XP_016869745.1:p.Lys629SerfsTer6
NM_138691.3:c.1883_1884del MANE Select	NP_619636.2:p.Lys628SerfsTer6