Canonical Allele Identifier: CA1955119161

Gene: KCNJ11

Linked Data

• ClinVar Variation Id: 988945
• ClinVar RCV Id: RCV001270679 ; RCV002226762
• dbSNP Id: rs1953574433

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17387202_17387204del , CM000673.2:g.17387202_17387204del	GRCh38
NC_000011.9:g.17408749_17408751del , CM000673.1:g.17408749_17408751del	GRCh37
NC_000011.8:g.17365325_17365327del	NCBI36
NG_012446.1:g.6460_6462del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682350.1:c.631_633del	ENSP00000508090.1:p.Thr211del
ENST00000682764.1:c.631_633del	ENSP00000506780.1:p.Thr211del
ENST00000339994.5:c.892_894del MANE Select	ENSP00000345708.4:p.Thr298del
ENST00000339994.4:c.892_894del	ENSP00000345708.4:p.Thr298del
ENST00000528731.1:c.631_633del	ENSP00000434755.1:p.Thr211del
NM_000525.3:c.892_894del	NP_000516.3:p.Thr298del
NM_001166290.1:c.631_633del	NP_001159762.1:p.Thr211del
XM_006718226.2:c.631_633del	XP_006718289.1:p.Thr211del
XR_930867.1:n.1050_1052del
XM_006718226.3:c.631_633del	XP_006718289.1:p.Thr211del
XM_017017680.1:c.631_633del	XP_016873169.1:p.Thr211del
NM_001166290.2:c.631_633del	NP_001159762.1:p.Thr211del
NM_001377296.1:c.631_633del	NP_001364225.1:p.Thr211del
NM_001377297.1:c.631_633del	NP_001364226.1:p.Thr211del
NM_000525.4:c.892_894del MANE Select	NP_000516.3:p.Thr298del