Canonical Allele Identifier: CA2695201085

Gene: KCNJ11

Linked Data

• ClinVar Variation Id: 2641642
• ClinVar RCV Id: RCV003397952

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17387255_17387272del , CM000673.2:g.17387255_17387272del	GRCh38
NC_000011.9:g.17408802_17408819del , CM000673.1:g.17408802_17408819del	GRCh37
NC_000011.8:g.17365378_17365395del	NCBI36
NG_012446.1:g.6393_6410del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682350.1:c.564_581del	ENSP00000508090.1:p.His189_Leu194del
ENST00000682764.1:c.564_581del	ENSP00000506780.1:p.His189_Leu194del
ENST00000339994.5:c.825_842del MANE Select	ENSP00000345708.4:p.His276_Leu281del
ENST00000339994.4:c.825_842del	ENSP00000345708.4:p.His276_Leu281del
ENST00000528731.1:c.564_581del	ENSP00000434755.1:p.His189_Leu194del
NM_000525.3:c.825_842del	NP_000516.3:p.His276_Leu281del
NM_001166290.1:c.564_581del	NP_001159762.1:p.His189_Leu194del
XM_006718226.2:c.564_581del	XP_006718289.1:p.His189_Leu194del
XR_930867.1:n.983_1000del
XM_006718226.3:c.564_581del	XP_006718289.1:p.His189_Leu194del
XM_017017680.1:c.564_581del	XP_016873169.1:p.His189_Leu194del
NM_001166290.2:c.564_581del	NP_001159762.1:p.His189_Leu194del
NM_001377296.1:c.564_581del	NP_001364225.1:p.His189_Leu194del
NM_001377297.1:c.564_581del	NP_001364226.1:p.His189_Leu194del
NM_000525.4:c.825_842del MANE Select	NP_000516.3:p.His276_Leu281del