Canonical Allele Identifier: CA2503102557
Gene: KCNJ11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17387366_17387367del , CM000673.2:g.17387366_17387367del GRCh38
NC_000011.9:g.17408913_17408914del , CM000673.1:g.17408913_17408914del GRCh37
NC_000011.8:g.17365489_17365490del NCBI36
NG_012446.1:g.6293_6294del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682350.1:c.464_465del ENSP00000508090.1:p.Asn155ArgfsTer20
ENST00000682764.1:c.464_465del ENSP00000506780.1:p.Asn155ArgfsTer20
ENST00000339994.5:c.725_726del MANE Select ENSP00000345708.4:p.Asn242ArgfsTer20
ENST00000339994.4:c.725_726del ENSP00000345708.4:p.Asn242ArgfsTer20
ENST00000528731.1:c.464_465del ENSP00000434755.1:p.Asn155ArgfsTer20
NM_000525.3:c.725_726del NP_000516.3:p.Asn242ArgfsTer20
NM_001166290.1:c.464_465del NP_001159762.1:p.Asn155ArgfsTer20
XM_006718226.2:c.464_465del XP_006718289.1:p.Asn155ArgfsTer20
XR_930867.1:n.883_884del
XM_006718226.3:c.464_465del XP_006718289.1:p.Asn155ArgfsTer20
XM_017017680.1:c.464_465del XP_016873169.1:p.Asn155ArgfsTer20
NM_001166290.2:c.464_465del NP_001159762.1:p.Asn155ArgfsTer20
NM_001377296.1:c.464_465del NP_001364225.1:p.Asn155ArgfsTer20
NM_001377297.1:c.464_465del NP_001364226.1:p.Asn155ArgfsTer20
NM_000525.4:c.725_726del MANE Select NP_000516.3:p.Asn242ArgfsTer20