Canonical Allele Identifier: CA2580615636

Gene: KCNJ11

Linked Data

• ClinVar Variation Id: 2137000
• ClinVar RCV Id: RCV003037368
• gnomAD v4: 11-17387239-CGAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17387243_17387245del , CM000673.2:g.17387243_17387245del	GRCh38
NC_000011.9:g.17408790_17408792del , CM000673.1:g.17408790_17408792del	GRCh37
NC_000011.8:g.17365366_17365368del	NCBI36
NG_012446.1:g.6418_6420del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682350.1:c.589_591del	ENSP00000508090.1:p.Ile197del
ENST00000682764.1:c.589_591del	ENSP00000506780.1:p.Ile197del
ENST00000339994.5:c.850_852del MANE Select	ENSP00000345708.4:p.Ile284del
ENST00000339994.4:c.850_852del	ENSP00000345708.4:p.Ile284del
ENST00000528731.1:c.589_591del	ENSP00000434755.1:p.Ile197del
NM_000525.3:c.850_852del	NP_000516.3:p.Ile284del
NM_001166290.1:c.589_591del	NP_001159762.1:p.Ile197del
XM_006718226.2:c.589_591del	XP_006718289.1:p.Ile197del
XR_930867.1:n.1008_1010del
XM_006718226.3:c.589_591del	XP_006718289.1:p.Ile197del
XM_017017680.1:c.589_591del	XP_016873169.1:p.Ile197del
NM_001166290.2:c.589_591del	NP_001159762.1:p.Ile197del
NM_001377296.1:c.589_591del	NP_001364225.1:p.Ile197del
NM_001377297.1:c.589_591del	NP_001364226.1:p.Ile197del
NM_000525.4:c.850_852del MANE Select	NP_000516.3:p.Ile284del