Canonical Allele Identifier: CA3054209975
Gene: KCNJ11 HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17387061_17387062del , CM000673.2:g.17387061_17387062del GRCh38
NC_000011.9:g.17408608_17408609del , CM000673.1:g.17408608_17408609del GRCh37
NC_000011.8:g.17365184_17365185del NCBI36
NG_012446.1:g.6598_6599del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682350.1:c.769_770del ENSP00000508090.1:p.Cys257HisfsTer6
ENST00000682764.1:c.769_770del ENSP00000506780.1:p.Cys257HisfsTer6
ENST00000339994.5:c.1030_1031del MANE Select ENSP00000345708.4:p.Cys344HisfsTer6
ENST00000339994.4:c.1030_1031del ENSP00000345708.4:p.Cys344HisfsTer6
ENST00000528731.1:c.769_770del ENSP00000434755.1:p.Cys257HisfsTer6
NM_000525.3:c.1030_1031del NP_000516.3:p.Cys344HisfsTer6
NM_001166290.1:c.769_770del NP_001159762.1:p.Cys257HisfsTer6
XM_006718226.2:c.769_770del XP_006718289.1:p.Cys257HisfsTer6
XR_930867.1:n.1188_1189del
XM_006718226.3:c.769_770del XP_006718289.1:p.Cys257HisfsTer6
XM_017017680.1:c.769_770del XP_016873169.1:p.Cys257HisfsTer6
NM_001166290.2:c.769_770del NP_001159762.1:p.Cys257HisfsTer6
NM_001377296.1:c.769_770del NP_001364225.1:p.Cys257HisfsTer6
NM_001377297.1:c.769_770del NP_001364226.1:p.Cys257HisfsTer6
NM_000525.4:c.1030_1031del MANE Select NP_000516.3:p.Cys344HisfsTer6