Canonical Allele Identifier: CA2579354277

Gene: TMC1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72805562_72805569del , CM000671.2:g.72805562_72805569del	GRCh38
NC_000009.11:g.75420478_75420485del , CM000671.1:g.75420478_75420485del	GRCh37
NC_000009.10:g.74610298_74610305del	NCBI36
NG_008213.1:g.288762_288769del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.1695+52_1695+59del MANE Select	ENSP00000297784.6:n.1695+52_1695+59del
ENST00000644967.1:c.1257+52_1257+59del	ENSP00000496159.1:n.1257+52_1257+59del
ENST00000645053.1:c.1257+52_1257+59del	ENSP00000493838.1:n.1257+52_1257+59del
ENST00000645208.2:c.1695+52_1695+59del	ENSP00000494684.1:n.1695+52_1695+59del
ENST00000645773.1:c.1569+52_1569+59del	ENSP00000493698.1:n.1569+52_1569+59del
ENST00000645787.1:n.1838+52_1838+59del
ENST00000646619.1:c.1257+52_1257+59del	ENSP00000493726.1:n.1257+52_1257+59del
ENST00000651183.1:c.1257+52_1257+59del	ENSP00000498723.1:n.1257+52_1257+59del
ENST00000297784.9:c.1695+52_1695+59del	ENSP00000297784.5:n.1695+52_1695+59del
ENST00000340019.4:c.1695+52_1695+59del	ENSP00000341433.3:n.1695+52_1695+59del
ENST00000486417.5:n.319+52_319+59del
NM_138691.2:c.1695+52_1695+59del	NP_619636.2:n.1695+52_1695+59del
XM_011518213.1:c.2283+52_2283+59del	XP_011516515.1:n.2283+52_2283+59del
XM_017014256.1:c.1698+52_1698+59del	XP_016869745.1:n.1698+52_1698+59del
NM_138691.3:c.1695+52_1695+59del MANE Select	NP_619636.2:n.1695+52_1695+59del