Canonical Allele Identifier: CA2612638592

Gene: KCNJ11

Linked Data

• gnomAD v4: 11-17387185-A-AGGTG

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17387186_17387189dup , CM000673.2:g.17387186_17387189dup	GRCh38
NC_000011.9:g.17408733_17408736dup , CM000673.1:g.17408733_17408736dup	GRCh37
NC_000011.8:g.17365309_17365312dup	NCBI36
NG_012446.1:g.6471_6474dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682350.1:c.642_645dup	ENSP00000508090.1:p.Ser216HisfsTer7
ENST00000682764.1:c.642_645dup	ENSP00000506780.1:p.Ser216HisfsTer7
ENST00000339994.5:c.903_906dup MANE Select	ENSP00000345708.4:p.Ser303HisfsTer7
ENST00000339994.4:c.903_906dup	ENSP00000345708.4:p.Ser303HisfsTer7
ENST00000528731.1:c.642_645dup	ENSP00000434755.1:p.Ser216HisfsTer7
NM_000525.3:c.903_906dup	NP_000516.3:p.Ser303HisfsTer7
NM_001166290.1:c.642_645dup	NP_001159762.1:p.Ser216HisfsTer7
XM_006718226.2:c.642_645dup	XP_006718289.1:p.Ser216HisfsTer7
XR_930867.1:n.1061_1064dup
XM_006718226.3:c.642_645dup	XP_006718289.1:p.Ser216HisfsTer7
XM_017017680.1:c.642_645dup	XP_016873169.1:p.Ser216HisfsTer7
NM_001166290.2:c.642_645dup	NP_001159762.1:p.Ser216HisfsTer7
NM_001377296.1:c.642_645dup	NP_001364225.1:p.Ser216HisfsTer7
NM_001377297.1:c.642_645dup	NP_001364226.1:p.Ser216HisfsTer7
NM_000525.4:c.903_906dup MANE Select	NP_000516.3:p.Ser303HisfsTer7