Canonical Allele Identifier: CA2612637792
Gene: KCNJ11 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17386788_17386789del , CM000673.2:g.17386788_17386789del GRCh38
NC_000011.9:g.17408335_17408336del , CM000673.1:g.17408335_17408336del GRCh37
NC_000011.8:g.17364911_17364912del NCBI36
NG_012446.1:g.6872_6873del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682350.1:c.*131_*132del ENSP00000508090.1:n.*131_*132del
ENST00000682764.1:c.*50+81_*50+82del ENSP00000506780.1:n.*50+81_*50+82del
ENST00000339994.5:c.*131_*132del MANE Select ENSP00000345708.4:n.*131_*132del
ENST00000339994.4:c.*131_*132del ENSP00000345708.4:n.*131_*132del
ENST00000528731.1:c.*131_*132del ENSP00000434755.1:n.*131_*132del
NM_000525.3:c.*131_*132del NP_000516.3:n.*131_*132del
NM_001166290.1:c.*131_*132del NP_001159762.1:n.*131_*132del
XM_006718226.2:c.*131_*132del XP_006718289.1:n.*131_*132del
XR_930867.1:n.1381+81_1381+82del
XM_006718226.3:c.*131_*132del XP_006718289.1:n.*131_*132del
XM_017017680.1:c.*131_*132del XP_016873169.1:n.*131_*132del
NM_001166290.2:c.*131_*132del NP_001159762.1:n.*131_*132del
NM_001377296.1:c.*131_*132del NP_001364225.1:n.*131_*132del
NM_001377297.1:c.*131_*132del NP_001364226.1:n.*131_*132del
NM_000525.4:c.*131_*132del MANE Select NP_000516.3:n.*131_*132del