Canonical Allele Identifier: CA2695213253
Gene: KCNJ11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17387852del , CM000673.2:g.17387852del GRCh38
NC_000011.9:g.17409399del , CM000673.1:g.17409399del GRCh37
NC_000011.8:g.17365975del NCBI36
NG_012446.1:g.5808del

Transcript Alleles

HGVS Amino-acid change
ENST00000528992.2:c.12del ENSP00000436479.2:p.Cys5AlafsTer?
ENST00000682350.1:c.-16-6del ENSP00000508090.1:n.-16-6del
ENST00000682764.1:c.-16-6del ENSP00000506780.1:n.-16-6del
ENST00000339994.5:c.240del MANE Select ENSP00000345708.4:p.Cys81AlafsTer?
ENST00000339994.4:c.240del ENSP00000345708.4:p.Cys81AlafsTer?
ENST00000526912.1:c.-16-6del ENSP00000432729.1:n.-16-6del
ENST00000528731.1:c.-16-6del ENSP00000434755.1:n.-16-6del
ENST00000528992.1:c.257del
NM_000525.3:c.240del NP_000516.3:p.Cys81AlafsTer?
NM_001166290.1:c.-16-6del NP_001159762.1:n.-16-6del
XM_006718226.2:c.-16-6del XP_006718289.1:n.-16-6del
XR_930867.1:n.398del
XM_006718226.3:c.-16-6del XP_006718289.1:n.-16-6del
XM_017017680.1:c.-16-6del XP_016873169.1:n.-16-6del
NM_001166290.2:c.-16-6del NP_001159762.1:n.-16-6del
NM_001377296.1:c.-16-6del NP_001364225.1:n.-16-6del
NM_001377297.1:c.-16-6del NP_001364226.1:n.-16-6del
NM_000525.4:c.240del MANE Select NP_000516.3:p.Cys81AlafsTer?