Canonical Allele Identifier: CA3003288800

Gene: KCNJ11

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17387312dup , CM000673.2:g.17387312dup	GRCh38
NC_000011.9:g.17408859dup , CM000673.1:g.17408859dup	GRCh37
NC_000011.8:g.17365435dup	NCBI36
NG_012446.1:g.6348dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682350.1:c.519dup	ENSP00000508090.1:p.Ile174HisfsTer2
ENST00000682764.1:c.519dup	ENSP00000506780.1:p.Ile174HisfsTer2
ENST00000339994.5:c.780dup MANE Select	ENSP00000345708.4:p.Ile261HisfsTer2
ENST00000339994.4:c.780dup	ENSP00000345708.4:p.Ile261HisfsTer2
ENST00000528731.1:c.519dup	ENSP00000434755.1:p.Ile174HisfsTer2
NM_000525.3:c.780dup	NP_000516.3:p.Ile261HisfsTer2
NM_001166290.1:c.519dup	NP_001159762.1:p.Ile174HisfsTer2
XM_006718226.2:c.519dup	XP_006718289.1:p.Ile174HisfsTer2
XR_930867.1:n.938dup
XM_006718226.3:c.519dup	XP_006718289.1:p.Ile174HisfsTer2
XM_017017680.1:c.519dup	XP_016873169.1:p.Ile174HisfsTer2
NM_001166290.2:c.519dup	NP_001159762.1:p.Ile174HisfsTer2
NM_001377296.1:c.519dup	NP_001364225.1:p.Ile174HisfsTer2
NM_001377297.1:c.519dup	NP_001364226.1:p.Ile174HisfsTer2
NM_000525.4:c.780dup MANE Select	NP_000516.3:p.Ile261HisfsTer2