Canonical Allele Identifier: CA2695213242

Gene: KCNJ11

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17387412_17387413delinsAG , CM000673.2:g.17387412_17387413delinsAG	GRCh38
NC_000011.9:g.17408959_17408960delinsAG , CM000673.1:g.17408959_17408960delinsAG	GRCh37
NC_000011.8:g.17365535_17365536delinsAG	NCBI36
NG_012446.1:g.6247_6248delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682350.1:c.418_419delinsCT	ENSP00000508090.1:p.Glu140Leu
ENST00000682764.1:c.418_419delinsCT	ENSP00000506780.1:p.Glu140Leu
ENST00000339994.5:c.679_680delinsCT MANE Select	ENSP00000345708.4:p.Glu227Leu
ENST00000339994.4:c.679_680delinsCT	ENSP00000345708.4:p.Glu227Leu
ENST00000526912.1:c.418_419delinsCT	ENSP00000432729.1:p.Glu140Leu
ENST00000528731.1:c.418_419delinsCT	ENSP00000434755.1:p.Glu140Leu
NM_000525.3:c.679_680delinsCT	NP_000516.3:p.Glu227Leu
NM_001166290.1:c.418_419delinsCT	NP_001159762.1:p.Glu140Leu
XM_006718226.2:c.418_419delinsCT	XP_006718289.1:p.Glu140Leu
XR_930867.1:n.837_838delinsCT
XM_006718226.3:c.418_419delinsCT	XP_006718289.1:p.Glu140Leu
XM_017017680.1:c.418_419delinsCT	XP_016873169.1:p.Glu140Leu
NM_001166290.2:c.418_419delinsCT	NP_001159762.1:p.Glu140Leu
NM_001377296.1:c.418_419delinsCT	NP_001364225.1:p.Glu140Leu
NM_001377297.1:c.418_419delinsCT	NP_001364226.1:p.Glu140Leu
NM_000525.4:c.679_680delinsCT MANE Select	NP_000516.3:p.Glu227Leu