Canonical Allele Identifier: CA2846660711
Gene: KCNJ11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17388028_17388030del , CM000673.2:g.17388028_17388030del GRCh38
NC_000011.9:g.17409575_17409577del , CM000673.1:g.17409575_17409577del GRCh37
NC_000011.8:g.17366151_17366153del NCBI36
NG_012446.1:g.5631_5633del

Transcript Alleles

HGVS Amino-acid Change
ENST00000528992.2:c.-166_-164del ENSP00000436479.2:n.-166_-164del
ENST00000682350.1:c.-16-183_-16-181del ENSP00000508090.1:n.-16-183_-16-181del
ENST00000682764.1:c.-16-183_-16-181del ENSP00000506780.1:n.-16-183_-16-181del
ENST00000339994.5:c.63_65del MANE Select ENSP00000345708.4:p.Ala22del
ENST00000339994.4:c.63_65del ENSP00000345708.4:p.Ala22del
ENST00000526912.1:c.-28_-26del ENSP00000432729.1:n.-28_-26del
ENST00000528731.1:c.-16-183_-16-181del ENSP00000434755.1:n.-16-183_-16-181del
ENST00000528992.1:c.80_82del
NM_000525.3:c.63_65del NP_000516.3:p.Ala22del
NM_001166290.1:c.-16-183_-16-181del NP_001159762.1:n.-16-183_-16-181del
XM_006718226.2:c.-16-183_-16-181del XP_006718289.1:n.-16-183_-16-181del
XR_930867.1:n.221_223del
XM_006718226.3:c.-16-183_-16-181del XP_006718289.1:n.-16-183_-16-181del
XM_017017680.1:c.-16-183_-16-181del XP_016873169.1:n.-16-183_-16-181del
NM_001166290.2:c.-16-183_-16-181del NP_001159762.1:n.-16-183_-16-181del
NM_001377296.1:c.-28_-26del NP_001364225.1:n.-28_-26del
NM_001377297.1:c.-16-183_-16-181del NP_001364226.1:n.-16-183_-16-181del
NM_000525.4:c.63_65del MANE Select NP_000516.3:p.Ala22del