Canonical Allele Identifier: CA597904312

Gene: KCNJ11

Linked Data

• dbSNP Id: rs1165630752
• gnomAD v2: 11-17409280-GC-G
• gnomAD v4: 11-17387733-GC-G
• MyVariant Identifiers: chr11:g.17409281del (hg19) ; chr11:g.17387734del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17387734del , CM000673.2:g.17387734del	GRCh38
NC_000011.9:g.17409281del , CM000673.1:g.17409281del	GRCh37
NC_000011.8:g.17365857del	NCBI36
NG_012446.1:g.5926del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528992.2:c.130del	ENSP00000436479.2:p.Ala44ProfsTer10
ENST00000682350.1:c.97del	ENSP00000508090.1:p.Ala33ProfsTer10
ENST00000682764.1:c.97del	ENSP00000506780.1:p.Ala33ProfsTer10
ENST00000339994.5:c.358del MANE Select	ENSP00000345708.4:p.Ala120ProfsTer10
ENST00000339994.4:c.358del	ENSP00000345708.4:p.Ala120ProfsTer10
ENST00000526912.1:c.97del	ENSP00000432729.1:p.Ala33ProfsTer10
ENST00000528731.1:c.97del	ENSP00000434755.1:p.Ala33ProfsTer10
ENST00000528992.1:c.375del
NM_000525.3:c.358del	NP_000516.3:p.Ala120ProfsTer10
NM_001166290.1:c.97del	NP_001159762.1:p.Ala33ProfsTer10
XM_006718226.2:c.97del	XP_006718289.1:p.Ala33ProfsTer10
XR_930867.1:n.516del
XM_006718226.3:c.97del	XP_006718289.1:p.Ala33ProfsTer10
XM_017017680.1:c.97del	XP_016873169.1:p.Ala33ProfsTer10
NM_001166290.2:c.97del	NP_001159762.1:p.Ala33ProfsTer10
NM_001377296.1:c.97del	NP_001364225.1:p.Ala33ProfsTer10
NM_001377297.1:c.97del	NP_001364226.1:p.Ala33ProfsTer10
NM_000525.4:c.358del MANE Select	NP_000516.3:p.Ala120ProfsTer10