Canonical Allele Identifier: CA2525018566

Gene: KCNJ11

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17387359_17387360insACCAGGACCTCGAGAT , CM000673.2:g.17387359_17387360insACCAGGACCTCGAGAT	GRCh38
NC_000011.9:g.17408906_17408907insACCAGGACCTCGAGAT , CM000673.1:g.17408906_17408907insACCAGGACCTCGAGAT	GRCh37
NC_000011.8:g.17365482_17365483insACCAGGACCTCGAGAT	NCBI36
NG_012446.1:g.6300_6301insATCTCGAGGTCCTGGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682350.1:c.471_472insATCTCGAGGTCCTGGT	ENSP00000508090.1:p.Gly158IlefsTer23
ENST00000682764.1:c.471_472insATCTCGAGGTCCTGGT	ENSP00000506780.1:p.Gly158IlefsTer23
ENST00000339994.5:c.732_733insATCTCGAGGTCCTGGT MANE Select	ENSP00000345708.4:p.Gly245IlefsTer23
ENST00000339994.4:c.732_733insATCTCGAGGTCCTGGT	ENSP00000345708.4:p.Gly245IlefsTer23
ENST00000528731.1:c.471_472insATCTCGAGGTCCTGGT	ENSP00000434755.1:p.Gly158IlefsTer23
NM_000525.3:c.732_733insATCTCGAGGTCCTGGT	NP_000516.3:p.Gly245IlefsTer23
NM_001166290.1:c.471_472insATCTCGAGGTCCTGGT	NP_001159762.1:p.Gly158IlefsTer23
XM_006718226.2:c.471_472insATCTCGAGGTCCTGGT	XP_006718289.1:p.Gly158IlefsTer23
XR_930867.1:n.890_891insATCTCGAGGTCCTGGT
XM_006718226.3:c.471_472insATCTCGAGGTCCTGGT	XP_006718289.1:p.Gly158IlefsTer23
XM_017017680.1:c.471_472insATCTCGAGGTCCTGGT	XP_016873169.1:p.Gly158IlefsTer23
NM_001166290.2:c.471_472insATCTCGAGGTCCTGGT	NP_001159762.1:p.Gly158IlefsTer23
NM_001377296.1:c.471_472insATCTCGAGGTCCTGGT	NP_001364225.1:p.Gly158IlefsTer23
NM_001377297.1:c.471_472insATCTCGAGGTCCTGGT	NP_001364226.1:p.Gly158IlefsTer23
NM_000525.4:c.732_733insATCTCGAGGTCCTGGT MANE Select	NP_000516.3:p.Gly245IlefsTer23