Canonical Allele Identifier: CA1855120789

Gene: TMC1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72821130_72821132delinsGGA , CM000671.2:g.72821130_72821132delinsGGA	GRCh38
NC_000009.11:g.75436046_75436048delinsGGA , CM000671.1:g.75436046_75436048delinsGGA	GRCh37
NC_000009.10:g.74625866_74625868delinsGGA	NCBI36
NG_008213.1:g.304330_304332delinsGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.2003+49_2003+51delinsGGA MANE Select	ENSP00000297784.6:n.2003+49_2003+51delinsGGA
ENST00000644967.1:c.*443+49_*443+51delinsGGA	ENSP00000496159.1:n.*443+49_*443+51delinsGGA
ENST00000645053.1:c.1258-5739_1258-5737delinsGGA	ENSP00000493838.1:n.1258-5739_1258-5737delinsGGA
ENST00000645208.2:c.2003+49_2003+51delinsGGA	ENSP00000494684.1:n.2003+49_2003+51delinsGGA
ENST00000645773.1:c.1877+49_1877+51delinsGGA	ENSP00000493698.1:n.1877+49_1877+51delinsGGA
ENST00000645787.1:n.2146+49_2146+51delinsGGA
ENST00000646619.1:c.1565+49_1565+51delinsGGA	ENSP00000493726.1:n.1565+49_1565+51delinsGGA
ENST00000651183.1:c.1565+49_1565+51delinsGGA	ENSP00000498723.1:n.1565+49_1565+51delinsGGA
ENST00000297784.9:c.2003+49_2003+51delinsGGA	ENSP00000297784.5:n.2003+49_2003+51delinsGGA
ENST00000340019.4:c.2003+49_2003+51delinsGGA	ENSP00000341433.3:n.2003+49_2003+51delinsGGA
ENST00000469455.1:n.484+49_484+51delinsGGA
ENST00000486417.5:n.901+49_901+51delinsGGA
NM_138691.2:c.2003+49_2003+51delinsGGA	NP_619636.2:n.2003+49_2003+51delinsGGA
XM_011518213.1:c.2591+49_2591+51delinsGGA	XP_011516515.1:n.2591+49_2591+51delinsGGA
XM_017014256.1:c.2006+49_2006+51delinsGGA	XP_016869745.1:n.2006+49_2006+51delinsGGA
NM_138691.3:c.2003+49_2003+51delinsGGA MANE Select	NP_619636.2:n.2003+49_2003+51delinsGGA