Canonical Allele Identifier: CA2695201084

Gene: KCNJ11

Linked Data

• ClinVar Variation Id: 2676211
• ClinVar RCV Id: RCV003461774

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17387598_17387601dup , CM000673.2:g.17387598_17387601dup	GRCh38
NC_000011.9:g.17409145_17409148dup , CM000673.1:g.17409145_17409148dup	GRCh37
NC_000011.8:g.17365721_17365724dup	NCBI36
NG_012446.1:g.6059_6062dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000682350.1:c.230_233dup	ENSP00000508090.1:p.Cys79TrpfsTer15
ENST00000682764.1:c.230_233dup	ENSP00000506780.1:p.Cys79TrpfsTer15
ENST00000339994.5:c.491_494dup MANE Select	ENSP00000345708.4:p.Cys166TrpfsTer15
ENST00000339994.4:c.491_494dup	ENSP00000345708.4:p.Cys166TrpfsTer15
ENST00000526912.1:c.230_233dup	ENSP00000432729.1:p.Cys79TrpfsTer15
ENST00000528731.1:c.230_233dup	ENSP00000434755.1:p.Cys79TrpfsTer15
NM_000525.3:c.491_494dup	NP_000516.3:p.Cys166TrpfsTer15
NM_001166290.1:c.230_233dup	NP_001159762.1:p.Cys79TrpfsTer15
XM_006718226.2:c.230_233dup	XP_006718289.1:p.Cys79TrpfsTer15
XR_930867.1:n.649_652dup
XM_006718226.3:c.230_233dup	XP_006718289.1:p.Cys79TrpfsTer15
XM_017017680.1:c.230_233dup	XP_016873169.1:p.Cys79TrpfsTer15
NM_001166290.2:c.230_233dup	NP_001159762.1:p.Cys79TrpfsTer15
NM_001377296.1:c.230_233dup	NP_001364225.1:p.Cys79TrpfsTer15
NM_001377297.1:c.230_233dup	NP_001364226.1:p.Cys79TrpfsTer15
NM_000525.4:c.491_494dup MANE Select	NP_000516.3:p.Cys166TrpfsTer15