Canonical Allele Identifier: CA2579354274

Gene: TMC1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72805531_72805532insTT , CM000671.2:g.72805531_72805532insTT	GRCh38
NC_000009.11:g.75420447_75420448insTT , CM000671.1:g.75420447_75420448insTT	GRCh37
NC_000009.10:g.74610267_74610268insTT	NCBI36
NG_008213.1:g.288731_288732insTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.1695+21_1695+22insTT MANE Select	ENSP00000297784.6:n.1695+21_1695+22insTT
ENST00000644967.1:c.1257+21_1257+22insTT	ENSP00000496159.1:n.1257+21_1257+22insTT
ENST00000645053.1:c.1257+21_1257+22insTT	ENSP00000493838.1:n.1257+21_1257+22insTT
ENST00000645208.2:c.1695+21_1695+22insTT	ENSP00000494684.1:n.1695+21_1695+22insTT
ENST00000645773.1:c.1569+21_1569+22insTT	ENSP00000493698.1:n.1569+21_1569+22insTT
ENST00000645787.1:n.1838+21_1838+22insTT
ENST00000646619.1:c.1257+21_1257+22insTT	ENSP00000493726.1:n.1257+21_1257+22insTT
ENST00000651183.1:c.1257+21_1257+22insTT	ENSP00000498723.1:n.1257+21_1257+22insTT
ENST00000297784.9:c.1695+21_1695+22insTT	ENSP00000297784.5:n.1695+21_1695+22insTT
ENST00000340019.4:c.1695+21_1695+22insTT	ENSP00000341433.3:n.1695+21_1695+22insTT
ENST00000486417.5:n.319+21_319+22insTT
NM_138691.2:c.1695+21_1695+22insTT	NP_619636.2:n.1695+21_1695+22insTT
XM_011518213.1:c.2283+21_2283+22insTT	XP_011516515.1:n.2283+21_2283+22insTT
XM_017014256.1:c.1698+21_1698+22insTT	XP_016869745.1:n.1698+21_1698+22insTT
NM_138691.3:c.1695+21_1695+22insTT MANE Select	NP_619636.2:n.1695+21_1695+22insTT