Canonical Allele Identifier: CA645570114
Gene: KCNJ5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.128916638_128916642del , CM000673.2:g.128916638_128916642del GRCh38
NC_000011.9:g.128786533_128786537del , CM000673.1:g.128786533_128786537del GRCh37
NC_000011.8:g.128291743_128291747del NCBI36
NG_023406.2:g.30221_30225del , LRG_333:g.30221_30225del

Transcript Alleles

HGVS Amino-acid change
ENST00000529694.6:c.1167_1171del MANE Select ENSP00000433295.1:p.Cys389Ter
ENST00000338350.4:c.1167_1171del ENSP00000339960.4:p.Cys389Ter
ENST00000529694.5:c.1167_1171del ENSP00000433295.1:p.Cys389Ter
ENST00000533599.1:c.1167_1171del ENSP00000434266.1:p.Cys389Ter
NM_000890.3:c.1167_1171del , LRG_333t1:c.1167_1171del NP_000881.3:p.Cys389Ter
XM_011542809.1:c.1167_1171del XP_011541111.1:p.Cys389Ter
XM_011542810.1:c.1167_1171del XP_011541112.1:p.Cys389Ter
NM_000890.4:c.1167_1171del NP_000881.3:p.Cys389Ter
NM_001354169.1:c.1167_1171del NP_001341098.1:p.Cys389Ter
XM_011542809.2:c.1167_1171del XP_011541111.1:p.Cys389Ter
XM_011542810.3:c.1167_1171del XP_011541112.1:p.Cys389Ter
NM_000890.5:c.1167_1171del MANE Select NP_000881.3:p.Cys389Ter
NM_001354169.2:c.1167_1171del NP_001341098.1:p.Cys389Ter