Canonical Allele Identifier: CA3003289159
Gene: KCNJ11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17387512_17387513del , CM000673.2:g.17387512_17387513del GRCh38
NC_000011.9:g.17409059_17409060del , CM000673.1:g.17409059_17409060del GRCh37
NC_000011.8:g.17365635_17365636del NCBI36
NG_012446.1:g.6147_6148del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682350.1:c.318_319del ENSP00000508090.1:p.His106GlnfsTer11
ENST00000682764.1:c.318_319del ENSP00000506780.1:p.His106GlnfsTer11
ENST00000339994.5:c.579_580del MANE Select ENSP00000345708.4:p.His193GlnfsTer11
ENST00000339994.4:c.579_580del ENSP00000345708.4:p.His193GlnfsTer11
ENST00000526912.1:c.318_319del ENSP00000432729.1:p.His106GlnfsTer11
ENST00000528731.1:c.318_319del ENSP00000434755.1:p.His106GlnfsTer11
NM_000525.3:c.579_580del NP_000516.3:p.His193GlnfsTer11
NM_001166290.1:c.318_319del NP_001159762.1:p.His106GlnfsTer11
XM_006718226.2:c.318_319del XP_006718289.1:p.His106GlnfsTer11
XR_930867.1:n.737_738del
XM_006718226.3:c.318_319del XP_006718289.1:p.His106GlnfsTer11
XM_017017680.1:c.318_319del XP_016873169.1:p.His106GlnfsTer11
NM_001166290.2:c.318_319del NP_001159762.1:p.His106GlnfsTer11
NM_001377296.1:c.318_319del NP_001364225.1:p.His106GlnfsTer11
NM_001377297.1:c.318_319del NP_001364226.1:p.His106GlnfsTer11
NM_000525.4:c.579_580del MANE Select NP_000516.3:p.His193GlnfsTer11