Canonical Allele Identifier: CA1855118677

Gene: TMC1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72816189_72816190delinsTC , CM000671.2:g.72816189_72816190delinsTC	GRCh38
NC_000009.11:g.75431105_75431106delinsTC , CM000671.1:g.75431105_75431106delinsTC	GRCh37
NC_000009.10:g.74620925_74620926delinsTC	NCBI36
NG_008213.1:g.299389_299390delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.1742_1743delinsTC MANE Select	ENSP00000297784.6:p.Ile581=
ENST00000644967.1:c.1304_1305delinsTC	ENSP00000496159.1:p.Ile435=
ENST00000645053.1:c.1258-10680_1258-10679delinsTC	ENSP00000493838.1:n.1258-10680_1258-10679delinsTC
ENST00000645208.2:c.1742_1743delinsTC	ENSP00000494684.1:p.Ile581=
ENST00000645773.1:c.1616_1617delinsTC	ENSP00000493698.1:p.Ile539=
ENST00000645787.1:n.1885_1886delinsTC
ENST00000646619.1:c.1304_1305delinsTC	ENSP00000493726.1:p.Ile435=
ENST00000651183.1:c.1304_1305delinsTC	ENSP00000498723.1:p.Ile435=
ENST00000297784.9:c.1742_1743delinsTC	ENSP00000297784.5:p.Ile581=
ENST00000340019.4:c.1742_1743delinsTC	ENSP00000341433.3:p.Ile581=
ENST00000469455.1:n.223_224delinsTC
ENST00000486417.5:n.366_367delinsTC
NM_138691.2:c.1742_1743delinsTC	NP_619636.2:p.Ile581=
XM_011518213.1:c.2330_2331delinsTC	XP_011516515.1:p.Ile777=
XM_017014256.1:c.1745_1746delinsTC	XP_016869745.1:p.Ile582=
NM_138691.3:c.1742_1743delinsTC MANE Select	NP_619636.2:p.Ile581=