Canonical Allele Identifier: CA2695201083

Gene: KCNJ11

Linked Data

• ClinVar Variation Id: 2676209
• ClinVar RCV Id: RCV003469880

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17387101_17387102del , CM000673.2:g.17387101_17387102del	GRCh38
NC_000011.9:g.17408648_17408649del , CM000673.1:g.17408648_17408649del	GRCh37
NC_000011.8:g.17365224_17365225del	NCBI36
NG_012446.1:g.6559_6560del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682350.1:c.730_731del	ENSP00000508090.1:p.Ser244GlnfsTer19
ENST00000682764.1:c.730_731del	ENSP00000506780.1:p.Ser244GlnfsTer19
ENST00000339994.5:c.991_992del MANE Select	ENSP00000345708.4:p.Ser331GlnfsTer19
ENST00000339994.4:c.991_992del	ENSP00000345708.4:p.Ser331GlnfsTer19
ENST00000528731.1:c.730_731del	ENSP00000434755.1:p.Ser244GlnfsTer19
NM_000525.3:c.991_992del	NP_000516.3:p.Ser331GlnfsTer19
NM_001166290.1:c.730_731del	NP_001159762.1:p.Ser244GlnfsTer19
XM_006718226.2:c.730_731del	XP_006718289.1:p.Ser244GlnfsTer19
XR_930867.1:n.1149_1150del
XM_006718226.3:c.730_731del	XP_006718289.1:p.Ser244GlnfsTer19
XM_017017680.1:c.730_731del	XP_016873169.1:p.Ser244GlnfsTer19
NM_001166290.2:c.730_731del	NP_001159762.1:p.Ser244GlnfsTer19
NM_001377296.1:c.730_731del	NP_001364225.1:p.Ser244GlnfsTer19
NM_001377297.1:c.730_731del	NP_001364226.1:p.Ser244GlnfsTer19
NM_000525.4:c.991_992del MANE Select	NP_000516.3:p.Ser331GlnfsTer19