Canonical Allele Identifier: CA2008251640
Gene: KCNJ1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.128840049_128840050delinsGA , CM000673.2:g.128840049_128840050delinsGA GRCh38
NC_000011.9:g.128709944_128709945delinsGA , CM000673.1:g.128709944_128709945delinsGA GRCh37
NC_000011.8:g.128215154_128215155delinsGA NCBI36
NG_009379.1:g.32324_32325delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000392666.6:c.194_195delinsTC MANE Select ENSP00000376434.1:p.Phe65=
ENST00000324003.3:c.194_195delinsTC ENSP00000316136.3:p.Phe65=
ENST00000324036.7:c.194_195delinsTC ENSP00000316233.3:p.Phe65=
ENST00000392664.2:c.251_252delinsTC ENSP00000376432.2:p.Phe84=
ENST00000392665.6:c.194_195delinsTC ENSP00000376433.2:p.Phe65=
ENST00000392666.5:c.194_195delinsTC ENSP00000376434.1:p.Phe65=
ENST00000440599.6:c.194_195delinsTC ENSP00000406320.2:p.Phe65=
NM_000220.4:c.251_252delinsTC NP_000211.1:p.Phe84=
NM_153764.2:c.194_195delinsTC NP_722448.1:p.Phe65=
NM_153765.2:c.245_246delinsTC NP_722449.3:p.Phe82=
NM_153766.2:c.194_195delinsTC NP_722450.1:p.Phe65=
NM_153767.3:c.194_195delinsTC NP_722451.1:p.Phe65=
NM_000220.6:c.251_252delinsTC NP_000211.1:p.Phe84=
NM_153764.3:c.194_195delinsTC NP_722448.1:p.Phe65=
NM_153765.3:c.245_246delinsTC NP_722449.3:p.Phe82=
NM_153766.3:c.194_195delinsTC MANE Select NP_722450.1:p.Phe65=
NM_153767.4:c.194_195delinsTC NP_722451.1:p.Phe65=