Canonical Allele Identifier: CA2695213246

Gene: KCNJ11

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17387726_17387751del , CM000673.2:g.17387726_17387751del	GRCh38
NC_000011.9:g.17409273_17409298del , CM000673.1:g.17409273_17409298del	GRCh37
NC_000011.8:g.17365849_17365874del	NCBI36
NG_012446.1:g.5910_5935del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528992.2:c.114_139del	ENSP00000436479.2:p.His39LeufsTer3
ENST00000682350.1:c.81_106del	ENSP00000508090.1:p.His28LeufsTer3
ENST00000682764.1:c.81_106del	ENSP00000506780.1:p.His28LeufsTer3
ENST00000339994.5:c.342_367del MANE Select	ENSP00000345708.4:p.His115LeufsTer3
ENST00000339994.4:c.342_367del	ENSP00000345708.4:p.His115LeufsTer3
ENST00000526912.1:c.81_106del	ENSP00000432729.1:p.His28LeufsTer3
ENST00000528731.1:c.81_106del	ENSP00000434755.1:p.His28LeufsTer3
ENST00000528992.1:c.359_384del
NM_000525.3:c.342_367del	NP_000516.3:p.His115LeufsTer3
NM_001166290.1:c.81_106del	NP_001159762.1:p.His28LeufsTer3
XM_006718226.2:c.81_106del	XP_006718289.1:p.His28LeufsTer3
XR_930867.1:n.500_525del
XM_006718226.3:c.81_106del	XP_006718289.1:p.His28LeufsTer3
XM_017017680.1:c.81_106del	XP_016873169.1:p.His28LeufsTer3
NM_001166290.2:c.81_106del	NP_001159762.1:p.His28LeufsTer3
NM_001377296.1:c.81_106del	NP_001364225.1:p.His28LeufsTer3
NM_001377297.1:c.81_106del	NP_001364226.1:p.His28LeufsTer3
NM_000525.4:c.342_367del MANE Select	NP_000516.3:p.His115LeufsTer3