Canonical Allele Identifier: CA2690288688

Gene: TMC1

Linked Data

• gnomAD v4: 9-72805538-T-TC

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72805538_72805539insC , CM000671.2:g.72805538_72805539insC	GRCh38
NC_000009.11:g.75420454_75420455insC , CM000671.1:g.75420454_75420455insC	GRCh37
NC_000009.10:g.74610274_74610275insC	NCBI36
NG_008213.1:g.288738_288739insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.1695+28_1695+29insC MANE Select	ENSP00000297784.6:n.1695+28_1695+29insC
ENST00000644967.1:c.1257+28_1257+29insC	ENSP00000496159.1:n.1257+28_1257+29insC
ENST00000645053.1:c.1257+28_1257+29insC	ENSP00000493838.1:n.1257+28_1257+29insC
ENST00000645208.2:c.1695+28_1695+29insC	ENSP00000494684.1:n.1695+28_1695+29insC
ENST00000645773.1:c.1569+28_1569+29insC	ENSP00000493698.1:n.1569+28_1569+29insC
ENST00000645787.1:n.1838+28_1838+29insC
ENST00000646619.1:c.1257+28_1257+29insC	ENSP00000493726.1:n.1257+28_1257+29insC
ENST00000651183.1:c.1257+28_1257+29insC	ENSP00000498723.1:n.1257+28_1257+29insC
ENST00000297784.9:c.1695+28_1695+29insC	ENSP00000297784.5:n.1695+28_1695+29insC
ENST00000340019.4:c.1695+28_1695+29insC	ENSP00000341433.3:n.1695+28_1695+29insC
ENST00000486417.5:n.319+28_319+29insC
NM_138691.2:c.1695+28_1695+29insC	NP_619636.2:n.1695+28_1695+29insC
XM_011518213.1:c.2283+28_2283+29insC	XP_011516515.1:n.2283+28_2283+29insC
XM_017014256.1:c.1698+28_1698+29insC	XP_016869745.1:n.1698+28_1698+29insC
NM_138691.3:c.1695+28_1695+29insC MANE Select	NP_619636.2:n.1695+28_1695+29insC