Canonical Allele Identifier: CA2616775462
Gene: KCNJ5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.128911459_128911473del , CM000673.2:g.128911459_128911473del GRCh38
NC_000011.9:g.128781354_128781368del , CM000673.1:g.128781354_128781368del GRCh37
NC_000011.8:g.128286564_128286578del NCBI36
NG_023406.2:g.25042_25056del , LRG_333:g.25042_25056del

Transcript Alleles

HGVS Amino-acid Change
ENST00000529694.6:c.186_200del MANE Select ENSP00000433295.1:p.His63_Val67del
ENST00000338350.4:c.186_200del ENSP00000339960.4:p.His63_Val67del
ENST00000529694.5:c.186_200del ENSP00000433295.1:p.His63_Val67del
ENST00000533599.1:c.186_200del ENSP00000434266.1:p.His63_Val67del
NM_000890.3:c.186_200del , LRG_333t1:c.186_200del NP_000881.3:p.His63_Val67del
XM_011542809.1:c.186_200del XP_011541111.1:p.His63_Val67del
XM_011542810.1:c.186_200del XP_011541112.1:p.His63_Val67del
NM_000890.4:c.186_200del NP_000881.3:p.His63_Val67del
NM_001354169.1:c.186_200del NP_001341098.1:p.His63_Val67del
XM_011542809.2:c.186_200del XP_011541111.1:p.His63_Val67del
XM_011542810.3:c.186_200del XP_011541112.1:p.His63_Val67del
NM_000890.5:c.186_200del MANE Select NP_000881.3:p.His63_Val67del
NM_001354169.2:c.186_200del NP_001341098.1:p.His63_Val67del