Canonical Allele Identifier: CA3003288789
Gene: KCNJ11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17387297dup , CM000673.2:g.17387297dup GRCh38
NC_000011.9:g.17408844dup , CM000673.1:g.17408844dup GRCh37
NC_000011.8:g.17365420dup NCBI36
NG_012446.1:g.6365dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000682350.1:c.536dup ENSP00000508090.1:p.Leu180ThrfsTer?
ENST00000682764.1:c.536dup ENSP00000506780.1:p.Leu180ThrfsTer?
ENST00000339994.5:c.797dup MANE Select ENSP00000345708.4:p.Leu267ThrfsTer?
ENST00000339994.4:c.797dup ENSP00000345708.4:p.Leu267ThrfsTer?
ENST00000528731.1:c.536dup ENSP00000434755.1:p.Leu180ThrfsTer?
NM_000525.3:c.797dup NP_000516.3:p.Leu267ThrfsTer?
NM_001166290.1:c.536dup NP_001159762.1:p.Leu180ThrfsTer?
XM_006718226.2:c.536dup XP_006718289.1:p.Leu180ThrfsTer?
XR_930867.1:n.955dup
XM_006718226.3:c.536dup XP_006718289.1:p.Leu180ThrfsTer?
XM_017017680.1:c.536dup XP_016873169.1:p.Leu180ThrfsTer?
NM_001166290.2:c.536dup NP_001159762.1:p.Leu180ThrfsTer?
NM_001377296.1:c.536dup NP_001364225.1:p.Leu180ThrfsTer?
NM_001377297.1:c.536dup NP_001364226.1:p.Leu180ThrfsTer?
NM_000525.4:c.797dup MANE Select NP_000516.3:p.Leu267ThrfsTer?