Canonical Allele Identifier: CA2561859217

Gene: KCNJ11

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17387644_17387652dup , CM000673.2:g.17387644_17387652dup	GRCh38
NC_000011.9:g.17409191_17409199dup , CM000673.1:g.17409191_17409199dup	GRCh37
NC_000011.8:g.17365767_17365775dup	NCBI36
NG_012446.1:g.6009_6017dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682350.1:c.180_188dup	ENSP00000508090.1:p.Leu62_Ile63insMetIleLeu
ENST00000682764.1:c.180_188dup	ENSP00000506780.1:p.Leu62_Ile63insMetIleLeu
ENST00000339994.5:c.441_449dup MANE Select	ENSP00000345708.4:p.Leu149_Ile150insMetIleLeu
ENST00000339994.4:c.441_449dup	ENSP00000345708.4:p.Leu149_Ile150insMetIleLeu
ENST00000526912.1:c.180_188dup	ENSP00000432729.1:p.Leu62_Ile63insMetIleLeu
ENST00000528731.1:c.180_188dup	ENSP00000434755.1:p.Leu62_Ile63insMetIleLeu
NM_000525.3:c.441_449dup	NP_000516.3:p.Leu149_Ile150insMetIleLeu
NM_001166290.1:c.180_188dup	NP_001159762.1:p.Leu62_Ile63insMetIleLeu
XM_006718226.2:c.180_188dup	XP_006718289.1:p.Leu62_Ile63insMetIleLeu
XR_930867.1:n.599_607dup
XM_006718226.3:c.180_188dup	XP_006718289.1:p.Leu62_Ile63insMetIleLeu
XM_017017680.1:c.180_188dup	XP_016873169.1:p.Leu62_Ile63insMetIleLeu
NM_001166290.2:c.180_188dup	NP_001159762.1:p.Leu62_Ile63insMetIleLeu
NM_001377296.1:c.180_188dup	NP_001364225.1:p.Leu62_Ile63insMetIleLeu
NM_001377297.1:c.180_188dup	NP_001364226.1:p.Leu62_Ile63insMetIleLeu
NM_000525.4:c.441_449dup MANE Select	NP_000516.3:p.Leu149_Ile150insMetIleLeu