Canonical Allele Identifier: CA1855113616

Gene: TMC1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72805548_72805552delinsAATTT , CM000671.2:g.72805548_72805552delinsAATTT	GRCh38
NC_000009.11:g.75420464_75420468delinsAATTT , CM000671.1:g.75420464_75420468delinsAATTT	GRCh37
NC_000009.10:g.74610284_74610288delinsAATTT	NCBI36
NG_008213.1:g.288748_288752delinsAATTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.1695+38_1695+42delinsAATTT MANE Select	ENSP00000297784.6:n.1695+38_1695+42delinsAATTT
ENST00000644967.1:c.1257+38_1257+42delinsAATTT	ENSP00000496159.1:n.1257+38_1257+42delinsAATTT
ENST00000645053.1:c.1257+38_1257+42delinsAATTT	ENSP00000493838.1:n.1257+38_1257+42delinsAATTT
ENST00000645208.2:c.1695+38_1695+42delinsAATTT	ENSP00000494684.1:n.1695+38_1695+42delinsAATTT
ENST00000645773.1:c.1569+38_1569+42delinsAATTT	ENSP00000493698.1:n.1569+38_1569+42delinsAATTT
ENST00000645787.1:n.1838+38_1838+42delinsAATTT
ENST00000646619.1:c.1257+38_1257+42delinsAATTT	ENSP00000493726.1:n.1257+38_1257+42delinsAATTT
ENST00000651183.1:c.1257+38_1257+42delinsAATTT	ENSP00000498723.1:n.1257+38_1257+42delinsAATTT
ENST00000297784.9:c.1695+38_1695+42delinsAATTT	ENSP00000297784.5:n.1695+38_1695+42delinsAATTT
ENST00000340019.4:c.1695+38_1695+42delinsAATTT	ENSP00000341433.3:n.1695+38_1695+42delinsAATTT
ENST00000486417.5:n.319+38_319+42delinsAATTT
NM_138691.2:c.1695+38_1695+42delinsAATTT	NP_619636.2:n.1695+38_1695+42delinsAATTT
XM_011518213.1:c.2283+38_2283+42delinsAATTT	XP_011516515.1:n.2283+38_2283+42delinsAATTT
XM_017014256.1:c.1698+38_1698+42delinsAATTT	XP_016869745.1:n.1698+38_1698+42delinsAATTT
NM_138691.3:c.1695+38_1695+42delinsAATTT MANE Select	NP_619636.2:n.1695+38_1695+42delinsAATTT