Canonical Allele Identifier: CA658822452

Gene: KCNJ11

Linked Data

• ClinVar Variation Id: 555827
• ClinVar RCV Id: RCV000671725 ; RCV002226732
• dbSNP Id: rs1554901658
• MyVariant Identifiers: chr11:g.17387249_17387251del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17387250_17387252del , CM000673.2:g.17387250_17387252del	GRCh38
NC_000011.9:g.17408797_17408799del , CM000673.1:g.17408797_17408799del	GRCh37
NC_000011.8:g.17365373_17365375del	NCBI36
NG_012446.1:g.6409_6411del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682350.1:c.580_582del	ENSP00000508090.1:p.Leu194del
ENST00000682764.1:c.580_582del	ENSP00000506780.1:p.Leu194del
ENST00000339994.5:c.841_843del MANE Select	ENSP00000345708.4:p.Leu281del
ENST00000339994.4:c.841_843del	ENSP00000345708.4:p.Leu281del
ENST00000528731.1:c.580_582del	ENSP00000434755.1:p.Leu194del
NM_000525.3:c.841_843del	NP_000516.3:p.Leu281del
NM_001166290.1:c.580_582del	NP_001159762.1:p.Leu194del
XM_006718226.2:c.580_582del	XP_006718289.1:p.Leu194del
XR_930867.1:n.999_1001del
XM_006718226.3:c.580_582del	XP_006718289.1:p.Leu194del
XM_017017680.1:c.580_582del	XP_016873169.1:p.Leu194del
NM_001166290.2:c.580_582del	NP_001159762.1:p.Leu194del
NM_001377296.1:c.580_582del	NP_001364225.1:p.Leu194del
NM_001377297.1:c.580_582del	NP_001364226.1:p.Leu194del
NM_000525.4:c.841_843del MANE Select	NP_000516.3:p.Leu281del