Canonical Allele Identifier: CA2008283107

Gene: KCNJ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.128865476_128865477delinsCT , CM000673.2:g.128865476_128865477delinsCT	GRCh38
NC_000011.9:g.128735371_128735372delinsCT , CM000673.1:g.128735371_128735372delinsCT	GRCh37
NC_000011.8:g.128240581_128240582delinsCT	NCBI36
NG_009379.1:g.6897_6898delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392666.6:c.-192+1696_-192+1697delinsAG MANE Select	ENSP00000376434.1:n.-192+1696_-192+1697delinsAG
ENST00000324003.3:c.-192+1696_-192+1697delinsAG	ENSP00000316136.3:n.-192+1696_-192+1697delinsAG
ENST00000324036.7:c.-192+1046_-192+1047delinsAG	ENSP00000316233.3:n.-192+1046_-192+1047delinsAG
ENST00000392665.6:c.-22+1696_-22+1697delinsAG	ENSP00000376433.2:n.-22+1696_-22+1697delinsAG
ENST00000392666.5:c.-192+1696_-192+1697delinsAG	ENSP00000376434.1:n.-192+1696_-192+1697delinsAG
ENST00000440599.6:c.-22+1046_-22+1047delinsAG	ENSP00000406320.2:n.-22+1046_-22+1047delinsAG
ENST00000531562.1:n.124+1696_124+1697delinsAG
NM_153764.2:c.-22+1696_-22+1697delinsAG	NP_722448.1:n.-22+1696_-22+1697delinsAG
NM_153765.2:c.30+1046_30+1047delinsAG	NP_722449.3:n.30+1046_30+1047delinsAG
NM_153766.2:c.-192+1696_-192+1697delinsAG	NP_722450.1:n.-192+1696_-192+1697delinsAG
NM_153767.3:c.-192+1046_-192+1047delinsAG	NP_722451.1:n.-192+1046_-192+1047delinsAG
XR_001748442.1:n.3533-1274_3533-1273delinsCT
NM_153764.3:c.-22+1696_-22+1697delinsAG	NP_722448.1:n.-22+1696_-22+1697delinsAG
NM_153765.3:c.30+1046_30+1047delinsAG	NP_722449.3:n.30+1046_30+1047delinsAG
NM_153766.3:c.-192+1696_-192+1697delinsAG MANE Select	NP_722450.1:n.-192+1696_-192+1697delinsAG
NM_153767.4:c.-192+1046_-192+1047delinsAG	NP_722451.1:n.-192+1046_-192+1047delinsAG