Canonical Allele Identifier: CA1855120815

Gene: TMC1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72821162_72821163delinsAT , CM000671.2:g.72821162_72821163delinsAT	GRCh38
NC_000009.11:g.75436078_75436079delinsAT , CM000671.1:g.75436078_75436079delinsAT	GRCh37
NC_000009.10:g.74625898_74625899delinsAT	NCBI36
NG_008213.1:g.304362_304363delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.2003+81_2003+82delinsAT MANE Select	ENSP00000297784.6:n.2003+81_2003+82delinsAT
ENST00000644967.1:c.*443+81_*443+82delinsAT	ENSP00000496159.1:n.*443+81_*443+82delinsAT
ENST00000645053.1:c.1258-5707_1258-5706delinsAT	ENSP00000493838.1:n.1258-5707_1258-5706delinsAT
ENST00000645208.2:c.2003+81_2003+82delinsAT	ENSP00000494684.1:n.2003+81_2003+82delinsAT
ENST00000645773.1:c.1877+81_1877+82delinsAT	ENSP00000493698.1:n.1877+81_1877+82delinsAT
ENST00000645787.1:n.2146+81_2146+82delinsAT
ENST00000646619.1:c.1565+81_1565+82delinsAT	ENSP00000493726.1:n.1565+81_1565+82delinsAT
ENST00000651183.1:c.1565+81_1565+82delinsAT	ENSP00000498723.1:n.1565+81_1565+82delinsAT
ENST00000297784.9:c.2003+81_2003+82delinsAT	ENSP00000297784.5:n.2003+81_2003+82delinsAT
ENST00000340019.4:c.2003+81_2003+82delinsAT	ENSP00000341433.3:n.2003+81_2003+82delinsAT
ENST00000469455.1:n.484+81_484+82delinsAT
ENST00000486417.5:n.901+81_901+82delinsAT
NM_138691.2:c.2003+81_2003+82delinsAT	NP_619636.2:n.2003+81_2003+82delinsAT
XM_011518213.1:c.2591+81_2591+82delinsAT	XP_011516515.1:n.2591+81_2591+82delinsAT
XM_017014256.1:c.2006+81_2006+82delinsAT	XP_016869745.1:n.2006+81_2006+82delinsAT
NM_138691.3:c.2003+81_2003+82delinsAT MANE Select	NP_619636.2:n.2003+81_2003+82delinsAT