Canonical Allele Identifier: CA2008286740
Gene: KCNJ1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.128839598_128839600delinsCTG , CM000673.2:g.128839598_128839600delinsCTG GRCh38
NC_000011.9:g.128709493_128709495delinsCTG , CM000673.1:g.128709493_128709495delinsCTG GRCh37
NC_000011.8:g.128214703_128214705delinsCTG NCBI36
NG_009379.1:g.32774_32776delinsCAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000392666.6:c.644_646delinsCAG MANE Select ENSP00000376434.1:p.Thr215=
ENST00000324036.7:c.644_646delinsCAG ENSP00000316233.3:p.Thr215=
ENST00000392664.2:c.701_703delinsCAG ENSP00000376432.2:p.Thr234=
ENST00000392665.6:c.644_646delinsCAG ENSP00000376433.2:p.Thr215=
ENST00000392666.5:c.644_646delinsCAG ENSP00000376434.1:p.Thr215=
ENST00000440599.6:c.644_646delinsCAG ENSP00000406320.2:p.Thr215=
NM_000220.4:c.701_703delinsCAG NP_000211.1:p.Thr234=
NM_153764.2:c.644_646delinsCAG NP_722448.1:p.Thr215=
NM_153765.2:c.695_697delinsCAG NP_722449.3:p.Thr232=
NM_153766.2:c.644_646delinsCAG NP_722450.1:p.Thr215=
NM_153767.3:c.644_646delinsCAG NP_722451.1:p.Thr215=
NM_000220.6:c.701_703delinsCAG NP_000211.1:p.Thr234=
NM_153764.3:c.644_646delinsCAG NP_722448.1:p.Thr215=
NM_153765.3:c.695_697delinsCAG NP_722449.3:p.Thr232=
NM_153766.3:c.644_646delinsCAG MANE Select NP_722450.1:p.Thr215=
NM_153767.4:c.644_646delinsCAG NP_722451.1:p.Thr215=