Canonical Allele Identifier: CA2831039171

Gene: KCNJ11

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17387285del , CM000673.2:g.17387285del	GRCh38
NC_000011.9:g.17408832del , CM000673.1:g.17408832del	GRCh37
NC_000011.8:g.17365408del	NCBI36
NG_012446.1:g.6376del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682350.1:c.547del	ENSP00000508090.1:p.Leu183TrpfsTer?
ENST00000682764.1:c.547del	ENSP00000506780.1:p.Leu183TrpfsTer?
ENST00000339994.5:c.808del MANE Select	ENSP00000345708.4:p.Leu270TrpfsTer?
ENST00000339994.4:c.808del	ENSP00000345708.4:p.Leu270TrpfsTer?
ENST00000528731.1:c.547del	ENSP00000434755.1:p.Leu183TrpfsTer?
NM_000525.3:c.808del	NP_000516.3:p.Leu270TrpfsTer?
NM_001166290.1:c.547del	NP_001159762.1:p.Leu183TrpfsTer?
XM_006718226.2:c.547del	XP_006718289.1:p.Leu183TrpfsTer?
XR_930867.1:n.966del
XM_006718226.3:c.547del	XP_006718289.1:p.Leu183TrpfsTer?
XM_017017680.1:c.547del	XP_016873169.1:p.Leu183TrpfsTer?
NM_001166290.2:c.547del	NP_001159762.1:p.Leu183TrpfsTer?
NM_001377296.1:c.547del	NP_001364225.1:p.Leu183TrpfsTer?
NM_001377297.1:c.547del	NP_001364226.1:p.Leu183TrpfsTer?
NM_000525.4:c.808del MANE Select	NP_000516.3:p.Leu270TrpfsTer?