Canonical Allele Identifier: CA2840305416

Gene: KCNJ11

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17387542_17387543del , CM000673.2:g.17387542_17387543del	GRCh38
NC_000011.9:g.17409089_17409090del , CM000673.1:g.17409089_17409090del	GRCh37
NC_000011.8:g.17365665_17365666del	NCBI36
NG_012446.1:g.6117_6118del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682350.1:c.288_289del	ENSP00000508090.1:p.Phe96LeufsTer21
ENST00000682764.1:c.288_289del	ENSP00000506780.1:p.Phe96LeufsTer21
ENST00000339994.5:c.549_550del MANE Select	ENSP00000345708.4:p.Phe183LeufsTer21
ENST00000339994.4:c.549_550del	ENSP00000345708.4:p.Phe183LeufsTer21
ENST00000526912.1:c.288_289del	ENSP00000432729.1:p.Phe96LeufsTer21
ENST00000528731.1:c.288_289del	ENSP00000434755.1:p.Phe96LeufsTer21
NM_000525.3:c.549_550del	NP_000516.3:p.Phe183LeufsTer21
NM_001166290.1:c.288_289del	NP_001159762.1:p.Phe96LeufsTer21
XM_006718226.2:c.288_289del	XP_006718289.1:p.Phe96LeufsTer21
XR_930867.1:n.707_708del
XM_006718226.3:c.288_289del	XP_006718289.1:p.Phe96LeufsTer21
XM_017017680.1:c.288_289del	XP_016873169.1:p.Phe96LeufsTer21
NM_001166290.2:c.288_289del	NP_001159762.1:p.Phe96LeufsTer21
NM_001377296.1:c.288_289del	NP_001364225.1:p.Phe96LeufsTer21
NM_001377297.1:c.288_289del	NP_001364226.1:p.Phe96LeufsTer21
NM_000525.4:c.549_550del MANE Select	NP_000516.3:p.Phe183LeufsTer21