Canonical Allele Identifier: CA3003288818
Gene: KCNJ11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17387327del , CM000673.2:g.17387327del GRCh38
NC_000011.9:g.17408874del , CM000673.1:g.17408874del GRCh37
NC_000011.8:g.17365450del NCBI36
NG_012446.1:g.6333del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682350.1:c.504del ENSP00000508090.1:p.Ile169SerfsTer?
ENST00000682764.1:c.504del ENSP00000506780.1:p.Ile169SerfsTer?
ENST00000339994.5:c.765del MANE Select ENSP00000345708.4:p.Ile256SerfsTer?
ENST00000339994.4:c.765del ENSP00000345708.4:p.Ile256SerfsTer?
ENST00000528731.1:c.504del ENSP00000434755.1:p.Ile169SerfsTer?
NM_000525.3:c.765del NP_000516.3:p.Ile256SerfsTer?
NM_001166290.1:c.504del NP_001159762.1:p.Ile169SerfsTer?
XM_006718226.2:c.504del XP_006718289.1:p.Ile169SerfsTer?
XR_930867.1:n.923del
XM_006718226.3:c.504del XP_006718289.1:p.Ile169SerfsTer?
XM_017017680.1:c.504del XP_016873169.1:p.Ile169SerfsTer?
NM_001166290.2:c.504del NP_001159762.1:p.Ile169SerfsTer?
NM_001377296.1:c.504del NP_001364225.1:p.Ile169SerfsTer?
NM_001377297.1:c.504del NP_001364226.1:p.Ile169SerfsTer?
NM_000525.4:c.765del MANE Select NP_000516.3:p.Ile256SerfsTer?