Canonical Allele Identifier: CA2612638755
Gene: KCNJ11 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17387417del , CM000673.2:g.17387417del GRCh38
NC_000011.9:g.17408964del , CM000673.1:g.17408964del GRCh37
NC_000011.8:g.17365540del NCBI36
NG_012446.1:g.6246del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682350.1:c.417del ENSP00000508090.1:p.Glu140ArgfsTer29
ENST00000682764.1:c.417del ENSP00000506780.1:p.Glu140ArgfsTer29
ENST00000339994.5:c.678del MANE Select ENSP00000345708.4:p.Glu227ArgfsTer29
ENST00000339994.4:c.678del ENSP00000345708.4:p.Glu227ArgfsTer29
ENST00000526912.1:c.417del ENSP00000432729.1:p.Glu140ArgfsTer?
ENST00000528731.1:c.417del ENSP00000434755.1:p.Glu140ArgfsTer29
NM_000525.3:c.678del NP_000516.3:p.Glu227ArgfsTer29
NM_001166290.1:c.417del NP_001159762.1:p.Glu140ArgfsTer29
XM_006718226.2:c.417del XP_006718289.1:p.Glu140ArgfsTer29
XR_930867.1:n.836del
XM_006718226.3:c.417del XP_006718289.1:p.Glu140ArgfsTer29
XM_017017680.1:c.417del XP_016873169.1:p.Glu140ArgfsTer29
NM_001166290.2:c.417del NP_001159762.1:p.Glu140ArgfsTer29
NM_001377296.1:c.417del NP_001364225.1:p.Glu140ArgfsTer29
NM_001377297.1:c.417del NP_001364226.1:p.Glu140ArgfsTer29
NM_000525.4:c.678del MANE Select NP_000516.3:p.Glu227ArgfsTer29