Canonical Allele Identifier: CA674172893

Gene: KCNJ11

Linked Data

• dbSNP Id: rs1252493997
• gnomAD v4: 11-17387239-C-CGAT
• MyVariant Identifiers: chr11:g.17408786_17408787insGAT (hg19) ; chr11:g.17387239_17387240insGAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17387243_17387245dup , CM000673.2:g.17387243_17387245dup	GRCh38
NC_000011.9:g.17408790_17408792dup , CM000673.1:g.17408790_17408792dup	GRCh37
NC_000011.8:g.17365366_17365368dup	NCBI36
NG_012446.1:g.6418_6420dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000682350.1:c.589_591dup	ENSP00000508090.1:p.Ile197_Val198insIle
ENST00000682764.1:c.589_591dup	ENSP00000506780.1:p.Ile197_Val198insIle
ENST00000339994.5:c.850_852dup MANE Select	ENSP00000345708.4:p.Ile284_Val285insIle
ENST00000339994.4:c.850_852dup	ENSP00000345708.4:p.Ile284_Val285insIle
ENST00000528731.1:c.589_591dup	ENSP00000434755.1:p.Ile197_Val198insIle
NM_000525.3:c.850_852dup	NP_000516.3:p.Ile284_Val285insIle
NM_001166290.1:c.589_591dup	NP_001159762.1:p.Ile197_Val198insIle
XM_006718226.2:c.589_591dup	XP_006718289.1:p.Ile197_Val198insIle
XR_930867.1:n.1008_1010dup
XM_006718226.3:c.589_591dup	XP_006718289.1:p.Ile197_Val198insIle
XM_017017680.1:c.589_591dup	XP_016873169.1:p.Ile197_Val198insIle
NM_001166290.2:c.589_591dup	NP_001159762.1:p.Ile197_Val198insIle
NM_001377296.1:c.589_591dup	NP_001364225.1:p.Ile197_Val198insIle
NM_001377297.1:c.589_591dup	NP_001364226.1:p.Ile197_Val198insIle
NM_000525.4:c.850_852dup MANE Select	NP_000516.3:p.Ile284_Val285insIle