Allele Registry

Canonical Allele Identifier: CA273627

Gene: TMC1 HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr9:g.72694693_72694697dupGGAGG

GRCh37 chr9:g.75309609_75309613dupGGAGG

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000156220

ClinVar Variation:

179431

dbSNP:

730880359

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72694693_72694697dup , CM000671.2:g.72694693_72694697dup	GRCh38
NC_000009.11:g.75309609_75309613dup , CM000671.1:g.75309609_75309613dup	GRCh37
NC_000009.10:g.74499429_74499433dup	NCBI36
NG_008213.1:g.177893_177897dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.215_219dup MANE Select	ENSP00000297784.6:p.Arg74GlyfsTer4
ENST00000644967.1:c.-98_-94dup	ENSP00000496159.1:n.-98_-94dup
ENST00000645053.1:c.-98_-94dup	ENSP00000493838.1:n.-98_-94dup
ENST00000645208.2:c.215_219dup	ENSP00000494684.1:p.Arg74GlyfsTer4
ENST00000645773.1:c.215_219dup	ENSP00000493698.1:p.Arg74GlyfsTer4
ENST00000645787.1:n.255_259dup
ENST00000646244.1:n.665_669dup
ENST00000646619.1:c.-98_-94dup	ENSP00000493726.1:n.-98_-94dup
ENST00000650689.1:n.639_643dup
ENST00000651183.1:c.-98_-94dup	ENSP00000498723.1:n.-98_-94dup
ENST00000297784.9:c.215_219dup	ENSP00000297784.5:p.Arg74GlyfsTer4
ENST00000340019.4:c.215_219dup	ENSP00000341433.3:p.Arg74GlyfsTer4
NM_138691.2:c.215_219dup	NP_619636.2:p.Arg74GlyfsTer4
XM_011518213.1:c.803_807dup	XP_011516515.1:p.Arg270GlyfsTer4
XM_017014256.1:c.218_222dup	XP_016869745.1:p.Arg75GlyfsTer4
NM_138691.3:c.215_219dup MANE Select	NP_619636.2:p.Arg74GlyfsTer4

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