Canonical Allele Identifier: CA2616771384

Gene: KCNJ1

Linked Data

• gnomAD v4: 11-128839735-G-GC

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.128839736dup , CM000673.2:g.128839736dup	GRCh38
NC_000011.9:g.128709631dup , CM000673.1:g.128709631dup	GRCh37
NC_000011.8:g.128214841dup	NCBI36
NG_009379.1:g.32638dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392666.6:c.508dup MANE Select	ENSP00000376434.1:p.Ala170GlyfsTer27
ENST00000324036.7:c.508dup	ENSP00000316233.3:p.Ala170GlyfsTer27
ENST00000392664.2:c.565dup	ENSP00000376432.2:p.Ala189GlyfsTer27
ENST00000392665.6:c.508dup	ENSP00000376433.2:p.Ala170GlyfsTer27
ENST00000392666.5:c.508dup	ENSP00000376434.1:p.Ala170GlyfsTer27
ENST00000440599.6:c.508dup	ENSP00000406320.2:p.Ala170GlyfsTer27
NM_000220.4:c.565dup	NP_000211.1:p.Ala189GlyfsTer27
NM_153764.2:c.508dup	NP_722448.1:p.Ala170GlyfsTer27
NM_153765.2:c.559dup	NP_722449.3:p.Ala187GlyfsTer27
NM_153766.2:c.508dup	NP_722450.1:p.Ala170GlyfsTer27
NM_153767.3:c.508dup	NP_722451.1:p.Ala170GlyfsTer27
NM_000220.6:c.565dup	NP_000211.1:p.Ala189GlyfsTer27
NM_153764.3:c.508dup	NP_722448.1:p.Ala170GlyfsTer27
NM_153765.3:c.559dup	NP_722449.3:p.Ala187GlyfsTer27
NM_153766.3:c.508dup MANE Select	NP_722450.1:p.Ala170GlyfsTer27
NM_153767.4:c.508dup	NP_722451.1:p.Ala170GlyfsTer27