Canonical Allele Identifier: CA3003288899

Gene: KCNJ11

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17387393dup , CM000673.2:g.17387393dup	GRCh38
NC_000011.9:g.17408940dup , CM000673.1:g.17408940dup	GRCh37
NC_000011.8:g.17365516dup	NCBI36
NG_012446.1:g.6268dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682350.1:c.439dup	ENSP00000508090.1:p.His147ProfsTer29
ENST00000682764.1:c.439dup	ENSP00000506780.1:p.His147ProfsTer29
ENST00000339994.5:c.700dup MANE Select	ENSP00000345708.4:p.His234ProfsTer29
ENST00000339994.4:c.700dup	ENSP00000345708.4:p.His234ProfsTer29
ENST00000526912.1:c.439dup	ENSP00000432729.1:p.His147ProfsTer?
ENST00000528731.1:c.439dup	ENSP00000434755.1:p.His147ProfsTer29
NM_000525.3:c.700dup	NP_000516.3:p.His234ProfsTer29
NM_001166290.1:c.439dup	NP_001159762.1:p.His147ProfsTer29
XM_006718226.2:c.439dup	XP_006718289.1:p.His147ProfsTer29
XR_930867.1:n.858dup
XM_006718226.3:c.439dup	XP_006718289.1:p.His147ProfsTer29
XM_017017680.1:c.439dup	XP_016873169.1:p.His147ProfsTer29
NM_001166290.2:c.439dup	NP_001159762.1:p.His147ProfsTer29
NM_001377296.1:c.439dup	NP_001364225.1:p.His147ProfsTer29
NM_001377297.1:c.439dup	NP_001364226.1:p.His147ProfsTer29
NM_000525.4:c.700dup MANE Select	NP_000516.3:p.His234ProfsTer29