Canonical Allele Identifier: CA209936
Gene: KCNJ11 HGNC NCBI

Linked Data

ClinVar Variation Id: 211222
ClinVar RCV Id: RCV000195253 RCV000669705 RCV002226695 RCV002492879
dbSNP Id: rs1440128889
ExAC: 11:17408495 A / ACTTGGG
gnomAD v2: 11-17408495-A-ACTTGGG
gnomAD v3: 11-17386948-A-ACTTGGG
gnomAD v4: 11-17386948-A-ACTTGGG
MyVariant Identifiers: chr11:g.17408496_17408501dup (hg19) chr11:g.17408498_17408499insGGGCTT (hg19) chr11:g.17408495_17408496insCTTGGG (hg19) chr11:g.17386949_17386954dup (hg38) chr11:g.17386951_17386952insGGGCTT (hg38) chr11:g.17386948_17386949insCTTGGG (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17386954_17386959dup , CM000673.2:g.17386954_17386959dup GRCh38
NC_000011.9:g.17408501_17408506dup , CM000673.1:g.17408501_17408506dup GRCh37
NC_000011.8:g.17365077_17365082dup NCBI36
NG_012446.1:g.6706_6711dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000682350.1:c.877_882dup ENSP00000508090.1:p.Lys294_Phe295insProLys
ENST00000682764.1:c.877_882dup ENSP00000506780.1:p.Lys294_Phe295insProLys
ENST00000339994.5:c.1138_1143dup MANE Select ENSP00000345708.4:p.Lys381_Phe382insProLys
ENST00000339994.4:c.1138_1143dup ENSP00000345708.4:p.Lys381_Phe382insProLys
ENST00000528731.1:c.877_882dup ENSP00000434755.1:p.Lys294_Phe295insProLys
NM_000525.3:c.1138_1143dup NP_000516.3:p.Lys381_Phe382insProLys
NM_001166290.1:c.877_882dup NP_001159762.1:p.Lys294_Phe295insProLys
XM_006718226.2:c.877_882dup XP_006718289.1:p.Lys294_Phe295insProLys
XR_930867.1:n.1296_1301dup
XM_006718226.3:c.877_882dup XP_006718289.1:p.Lys294_Phe295insProLys
XM_017017680.1:c.877_882dup XP_016873169.1:p.Lys294_Phe295insProLys
NM_001166290.2:c.877_882dup NP_001159762.1:p.Lys294_Phe295insProLys
NM_001377296.1:c.877_882dup NP_001364225.1:p.Lys294_Phe295insProLys
NM_001377297.1:c.877_882dup NP_001364226.1:p.Lys294_Phe295insProLys
NM_000525.4:c.1138_1143dup MANE Select NP_000516.3:p.Lys381_Phe382insProLys
Search 100 bp 5'
Search 100 bp 3'