Canonical Allele Identifier: CA2616775472

Gene: KCNJ5

Linked Data

• gnomAD v4: 11-128912019-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.128912020del , CM000673.2:g.128912020del	GRCh38
NC_000011.9:g.128781915del , CM000673.1:g.128781915del	GRCh37
NC_000011.8:g.128287125del	NCBI36
NG_023406.2:g.25603del , LRG_333:g.25603del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529694.6:c.747del MANE Select	ENSP00000433295.1:p.Phe249LeufsTer4
ENST00000338350.4:c.747del	ENSP00000339960.4:p.Phe249LeufsTer4
ENST00000529694.5:c.747del	ENSP00000433295.1:p.Phe249LeufsTer4
ENST00000533599.1:c.747del	ENSP00000434266.1:p.Phe249LeufsTer4
NM_000890.3:c.747del , LRG_333t1:c.747del	NP_000881.3:p.Phe249LeufsTer4
XM_011542809.1:c.747del	XP_011541111.1:p.Phe249LeufsTer4
XM_011542810.1:c.747del	XP_011541112.1:p.Phe249LeufsTer4
NM_000890.4:c.747del	NP_000881.3:p.Phe249LeufsTer4
NM_001354169.1:c.747del	NP_001341098.1:p.Phe249LeufsTer4
XM_011542809.2:c.747del	XP_011541111.1:p.Phe249LeufsTer4
XM_011542810.3:c.747del	XP_011541112.1:p.Phe249LeufsTer4
NM_000890.5:c.747del MANE Select	NP_000881.3:p.Phe249LeufsTer4
NM_001354169.2:c.747del	NP_001341098.1:p.Phe249LeufsTer4