Canonical Allele Identifier: CA2690288679

Gene: TMC1

Linked Data

• gnomAD v4: 9-72805532-C-CTTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72805542_72805546dup , CM000671.2:g.72805542_72805546dup	GRCh38
NC_000009.11:g.75420458_75420462dup , CM000671.1:g.75420458_75420462dup	GRCh37
NC_000009.10:g.74610278_74610282dup	NCBI36
NG_008213.1:g.288742_288746dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.1695+32_1695+36dup MANE Select	ENSP00000297784.6:n.1695+32_1695+36dup
ENST00000644967.1:c.1257+32_1257+36dup	ENSP00000496159.1:n.1257+32_1257+36dup
ENST00000645053.1:c.1257+32_1257+36dup	ENSP00000493838.1:n.1257+32_1257+36dup
ENST00000645208.2:c.1695+32_1695+36dup	ENSP00000494684.1:n.1695+32_1695+36dup
ENST00000645773.1:c.1569+32_1569+36dup	ENSP00000493698.1:n.1569+32_1569+36dup
ENST00000645787.1:n.1838+32_1838+36dup
ENST00000646619.1:c.1257+32_1257+36dup	ENSP00000493726.1:n.1257+32_1257+36dup
ENST00000651183.1:c.1257+32_1257+36dup	ENSP00000498723.1:n.1257+32_1257+36dup
ENST00000297784.9:c.1695+32_1695+36dup	ENSP00000297784.5:n.1695+32_1695+36dup
ENST00000340019.4:c.1695+32_1695+36dup	ENSP00000341433.3:n.1695+32_1695+36dup
ENST00000486417.5:n.319+32_319+36dup
NM_138691.2:c.1695+32_1695+36dup	NP_619636.2:n.1695+32_1695+36dup
XM_011518213.1:c.2283+32_2283+36dup	XP_011516515.1:n.2283+32_2283+36dup
XM_017014256.1:c.1698+32_1698+36dup	XP_016869745.1:n.1698+32_1698+36dup
NM_138691.3:c.1695+32_1695+36dup MANE Select	NP_619636.2:n.1695+32_1695+36dup