Canonical Allele Identifier: CA5902152

Gene: KCNJ11

Linked Data

• dbSNP Id: rs759640892
• ExAC: 11:17408425 CGTGTGTA / C
• gnomAD v2: 11-17408425-CGTGTGTA-C
• gnomAD v3: 11-17386878-CGTGTGTA-C
• gnomAD v4: 11-17386878-CGTGTGTA-C
• MyVariant Identifiers: chr11:g.17408426_17408432del (hg19) ; chr11:g.17386879_17386885del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17386879_17386885del , CM000673.2:g.17386879_17386885del	GRCh38
NC_000011.9:g.17408426_17408432del , CM000673.1:g.17408426_17408432del	GRCh37
NC_000011.8:g.17365002_17365008del	NCBI36
NG_012446.1:g.6775_6781del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682350.1:c.*34_*40del	ENSP00000508090.1:n.*34_*40del
ENST00000682764.1:c.*34_*40del	ENSP00000506780.1:n.*34_*40del
ENST00000339994.5:c.*34_*40del MANE Select	ENSP00000345708.4:n.*34_*40del
ENST00000339994.4:c.*34_*40del	ENSP00000345708.4:n.*34_*40del
ENST00000528731.1:c.*34_*40del	ENSP00000434755.1:n.*34_*40del
NM_000525.3:c.*34_*40del	NP_000516.3:n.*34_*40del
NM_001166290.1:c.*34_*40del	NP_001159762.1:n.*34_*40del
XM_006718226.2:c.*34_*40del	XP_006718289.1:n.*34_*40del
XR_930867.1:n.1365_1371del
XM_006718226.3:c.*34_*40del	XP_006718289.1:n.*34_*40del
XM_017017680.1:c.*34_*40del	XP_016873169.1:n.*34_*40del
NM_001166290.2:c.*34_*40del	NP_001159762.1:n.*34_*40del
NM_001377296.1:c.*34_*40del	NP_001364225.1:n.*34_*40del
NM_001377297.1:c.*34_*40del	NP_001364226.1:n.*34_*40del
NM_000525.4:c.*34_*40del MANE Select	NP_000516.3:n.*34_*40del