Canonical Allele Identifier: CA912971884
Gene: KCNJ11 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17387727_17387731del , CM000673.2:g.17387727_17387731del GRCh38
NC_000011.9:g.17409274_17409278del , CM000673.1:g.17409274_17409278del GRCh37
NC_000011.8:g.17365850_17365854del NCBI36
NG_012446.1:g.5931_5935del

Transcript Alleles

HGVS Amino-acid Change
ENST00000528992.2:c.135_139del ENSP00000436479.2:p.Phe47HisfsTer2
ENST00000682350.1:c.102_106del ENSP00000508090.1:p.Phe36HisfsTer2
ENST00000682764.1:c.102_106del ENSP00000506780.1:p.Phe36HisfsTer2
ENST00000339994.5:c.363_367del MANE Select ENSP00000345708.4:p.Phe123HisfsTer2
ENST00000339994.4:c.363_367del ENSP00000345708.4:p.Phe123HisfsTer2
ENST00000526912.1:c.102_106del ENSP00000432729.1:p.Phe36HisfsTer2
ENST00000528731.1:c.102_106del ENSP00000434755.1:p.Phe36HisfsTer2
ENST00000528992.1:c.380_384del
NM_000525.3:c.363_367del NP_000516.3:p.Phe123HisfsTer2
NM_001166290.1:c.102_106del NP_001159762.1:p.Phe36HisfsTer2
XM_006718226.2:c.102_106del XP_006718289.1:p.Phe36HisfsTer2
XR_930867.1:n.521_525del
XM_006718226.3:c.102_106del XP_006718289.1:p.Phe36HisfsTer2
XM_017017680.1:c.102_106del XP_016873169.1:p.Phe36HisfsTer2
NM_001166290.2:c.102_106del NP_001159762.1:p.Phe36HisfsTer2
NM_001377296.1:c.102_106del NP_001364225.1:p.Phe36HisfsTer2
NM_001377297.1:c.102_106del NP_001364226.1:p.Phe36HisfsTer2
NM_000525.4:c.363_367del MANE Select NP_000516.3:p.Phe123HisfsTer2