Canonical Allele Identifier: CA912971887

Gene: KCNJ11

Linked Data

• MyVariant Identifiers: chr11:g.17408867dup (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17387320dup , CM000673.2:g.17387320dup	GRCh38
NC_000011.9:g.17408867dup , CM000673.1:g.17408867dup	GRCh37
NC_000011.8:g.17365443dup	NCBI36
NG_012446.1:g.6340dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682350.1:c.511dup	ENSP00000508090.1:p.Tyr171LeufsTer5
ENST00000682764.1:c.511dup	ENSP00000506780.1:p.Tyr171LeufsTer5
ENST00000339994.5:c.772dup MANE Select	ENSP00000345708.4:p.Tyr258LeufsTer5
ENST00000339994.4:c.772dup	ENSP00000345708.4:p.Tyr258LeufsTer5
ENST00000528731.1:c.511dup	ENSP00000434755.1:p.Tyr171LeufsTer5
NM_000525.3:c.772dup	NP_000516.3:p.Tyr258LeufsTer5
NM_001166290.1:c.511dup	NP_001159762.1:p.Tyr171LeufsTer5
XM_006718226.2:c.511dup	XP_006718289.1:p.Tyr171LeufsTer5
XR_930867.1:n.930dup
XM_006718226.3:c.511dup	XP_006718289.1:p.Tyr171LeufsTer5
XM_017017680.1:c.511dup	XP_016873169.1:p.Tyr171LeufsTer5
NM_001166290.2:c.511dup	NP_001159762.1:p.Tyr171LeufsTer5
NM_001377296.1:c.511dup	NP_001364225.1:p.Tyr171LeufsTer5
NM_001377297.1:c.511dup	NP_001364226.1:p.Tyr171LeufsTer5
NM_000525.4:c.772dup MANE Select	NP_000516.3:p.Tyr258LeufsTer5