Canonical Allele Identifier: CA2008283055
Gene: KCNJ1 HGNC NCBI

Linked Data

dbSNP Id: rs1943799416

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.128865383del , CM000673.2:g.128865383del GRCh38
NC_000011.9:g.128735278del , CM000673.1:g.128735278del GRCh37
NC_000011.8:g.128240488del NCBI36
NG_009379.1:g.6993del

Transcript Alleles

HGVS Amino-acid Change
ENST00000392666.6:c.-192+1792del MANE Select ENSP00000376434.1:n.-192+1792del
ENST00000324003.3:c.-192+1792del ENSP00000316136.3:n.-192+1792del
ENST00000324036.7:c.-192+1142del ENSP00000316233.3:n.-192+1142del
ENST00000392665.6:c.-22+1792del ENSP00000376433.2:n.-22+1792del
ENST00000392666.5:c.-192+1792del ENSP00000376434.1:n.-192+1792del
ENST00000440599.6:c.-22+1142del ENSP00000406320.2:n.-22+1142del
ENST00000531562.1:n.124+1792del
NM_153764.2:c.-22+1792del NP_722448.1:n.-22+1792del
NM_153765.2:c.30+1142del NP_722449.3:n.30+1142del
NM_153766.2:c.-192+1792del NP_722450.1:n.-192+1792del
NM_153767.3:c.-192+1142del NP_722451.1:n.-192+1142del
XR_001748442.1:n.3533-1367del
NM_153764.3:c.-22+1792del NP_722448.1:n.-22+1792del
NM_153765.3:c.30+1142del NP_722449.3:n.30+1142del
NM_153766.3:c.-192+1792del MANE Select NP_722450.1:n.-192+1792del
NM_153767.4:c.-192+1142del NP_722451.1:n.-192+1142del