Canonical Allele Identifier: CA1955119181

Gene: KCNJ11

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17387248_17387251delinsCGAG , CM000673.2:g.17387248_17387251delinsCGAG	GRCh38
NC_000011.9:g.17408795_17408798delinsCGAG , CM000673.1:g.17408795_17408798delinsCGAG	GRCh37
NC_000011.8:g.17365371_17365374delinsCGAG	NCBI36
NG_012446.1:g.6409_6412delinsCTCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682350.1:c.580_583delinsCTCG	ENSP00000508090.1:p.Leu194=
ENST00000682764.1:c.580_583delinsCTCG	ENSP00000506780.1:p.Leu194=
ENST00000339994.5:c.841_844delinsCTCG MANE Select	ENSP00000345708.4:p.Leu281=
ENST00000339994.4:c.841_844delinsCTCG	ENSP00000345708.4:p.Leu281=
ENST00000528731.1:c.580_583delinsCTCG	ENSP00000434755.1:p.Leu194=
NM_000525.3:c.841_844delinsCTCG	NP_000516.3:p.Leu281=
NM_001166290.1:c.580_583delinsCTCG	NP_001159762.1:p.Leu194=
XM_006718226.2:c.580_583delinsCTCG	XP_006718289.1:p.Leu194=
XR_930867.1:n.999_1002delinsCTCG
XM_006718226.3:c.580_583delinsCTCG	XP_006718289.1:p.Leu194=
XM_017017680.1:c.580_583delinsCTCG	XP_016873169.1:p.Leu194=
NM_001166290.2:c.580_583delinsCTCG	NP_001159762.1:p.Leu194=
NM_001377296.1:c.580_583delinsCTCG	NP_001364225.1:p.Leu194=
NM_001377297.1:c.580_583delinsCTCG	NP_001364226.1:p.Leu194=
NM_000525.4:c.841_844delinsCTCG MANE Select	NP_000516.3:p.Leu281=