Canonical Allele Identifier: CA1955119052
Gene: KCNJ11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17386962_17386968delinsTTGGCCA , CM000673.2:g.17386962_17386968delinsTTGGCCA GRCh38
NC_000011.9:g.17408509_17408515delinsTTGGCCA , CM000673.1:g.17408509_17408515delinsTTGGCCA GRCh37
NC_000011.8:g.17365085_17365091delinsTTGGCCA NCBI36
NG_012446.1:g.6692_6698delinsTGGCCAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000682350.1:c.863_869delinsTGGCCAA ENSP00000508090.1:p.Met288=
ENST00000682764.1:c.863_869delinsTGGCCAA ENSP00000506780.1:p.Met288=
ENST00000339994.5:c.1124_1130delinsTGGCCAA MANE Select ENSP00000345708.4:p.Met375=
ENST00000339994.4:c.1124_1130delinsTGGCCAA ENSP00000345708.4:p.Met375=
ENST00000528731.1:c.863_869delinsTGGCCAA ENSP00000434755.1:p.Met288=
NM_000525.3:c.1124_1130delinsTGGCCAA NP_000516.3:p.Met375=
NM_001166290.1:c.863_869delinsTGGCCAA NP_001159762.1:p.Met288=
XM_006718226.2:c.863_869delinsTGGCCAA XP_006718289.1:p.Met288=
XR_930867.1:n.1282_1288delinsTGGCCAA
XM_006718226.3:c.863_869delinsTGGCCAA XP_006718289.1:p.Met288=
XM_017017680.1:c.863_869delinsTGGCCAA XP_016873169.1:p.Met288=
NM_001166290.2:c.863_869delinsTGGCCAA NP_001159762.1:p.Met288=
NM_001377296.1:c.863_869delinsTGGCCAA NP_001364225.1:p.Met288=
NM_001377297.1:c.863_869delinsTGGCCAA NP_001364226.1:p.Met288=
NM_000525.4:c.1124_1130delinsTGGCCAA MANE Select NP_000516.3:p.Met375=