Canonical Allele Identifier: CA1855120732

Gene: TMC1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72821057_72821063delinsCATCTTT , CM000671.2:g.72821057_72821063delinsCATCTTT	GRCh38
NC_000009.11:g.75435973_75435979delinsCATCTTT , CM000671.1:g.75435973_75435979delinsCATCTTT	GRCh37
NC_000009.10:g.74625793_74625799delinsCATCTTT	NCBI36
NG_008213.1:g.304257_304263delinsCATCTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.1979_1985delinsCATCTTT MANE Select	ENSP00000297784.6:p.Pro660=
ENST00000644967.1:c.*419_*425delinsCATCTTT	ENSP00000496159.1:n.*419_*425delinsCATCTTT
ENST00000645053.1:c.1258-5812_1258-5806delinsCATCTTT	ENSP00000493838.1:n.1258-5812_1258-5806delinsCATCTTT
ENST00000645208.2:c.1979_1985delinsCATCTTT	ENSP00000494684.1:p.Pro660=
ENST00000645773.1:c.1853_1859delinsCATCTTT	ENSP00000493698.1:p.Pro618=
ENST00000645787.1:n.2122_2128delinsCATCTTT
ENST00000646619.1:c.1541_1547delinsCATCTTT	ENSP00000493726.1:p.Pro514=
ENST00000651183.1:c.1541_1547delinsCATCTTT	ENSP00000498723.1:p.Pro514=
ENST00000297784.9:c.1979_1985delinsCATCTTT	ENSP00000297784.5:p.Pro660=
ENST00000340019.4:c.1979_1985delinsCATCTTT	ENSP00000341433.3:p.Pro660=
ENST00000469455.1:n.460_466delinsCATCTTT
ENST00000486417.5:n.877_883delinsCATCTTT
NM_138691.2:c.1979_1985delinsCATCTTT	NP_619636.2:p.Pro660=
XM_011518213.1:c.2567_2573delinsCATCTTT	XP_011516515.1:p.Pro856=
XM_017014256.1:c.1982_1988delinsCATCTTT	XP_016869745.1:p.Pro661=
NM_138691.3:c.1979_1985delinsCATCTTT MANE Select	NP_619636.2:p.Pro660=