Canonical Allele Identifier: CA2784604590

Gene: TMC1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72821201_72821205del , CM000671.2:g.72821201_72821205del	GRCh38
NC_000009.11:g.75436117_75436121del , CM000671.1:g.75436117_75436121del	GRCh37
NC_000009.10:g.74625937_74625941del	NCBI36
NG_008213.1:g.304401_304405del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.2003+120_2003+124del MANE Select	ENSP00000297784.6:n.2003+120_2003+124del
ENST00000644967.1:c.*443+120_*443+124del	ENSP00000496159.1:n.*443+120_*443+124del
ENST00000645053.1:c.1258-5668_1258-5664del	ENSP00000493838.1:n.1258-5668_1258-5664del
ENST00000645208.2:c.2003+120_2003+124del	ENSP00000494684.1:n.2003+120_2003+124del
ENST00000645773.1:c.1877+120_1877+124del	ENSP00000493698.1:n.1877+120_1877+124del
ENST00000645787.1:n.2146+120_2146+124del
ENST00000646619.1:c.1565+120_1565+124del	ENSP00000493726.1:n.1565+120_1565+124del
ENST00000651183.1:c.1565+120_1565+124del	ENSP00000498723.1:n.1565+120_1565+124del
ENST00000297784.9:c.2003+120_2003+124del	ENSP00000297784.5:n.2003+120_2003+124del
ENST00000340019.4:c.2003+120_2003+124del	ENSP00000341433.3:n.2003+120_2003+124del
ENST00000469455.1:n.484+120_484+124del
ENST00000486417.5:n.901+120_901+124del
NM_138691.2:c.2003+120_2003+124del	NP_619636.2:n.2003+120_2003+124del
XM_011518213.1:c.2591+120_2591+124del	XP_011516515.1:n.2591+120_2591+124del
XM_017014256.1:c.2006+120_2006+124del	XP_016869745.1:n.2006+120_2006+124del
NM_138691.3:c.2003+120_2003+124del MANE Select	NP_619636.2:n.2003+120_2003+124del