Canonical Allele Identifier: CA3003288929
Gene: KCNJ11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17387418_17387419insG , CM000673.2:g.17387418_17387419insG GRCh38
NC_000011.9:g.17408965_17408966insG , CM000673.1:g.17408965_17408966insG GRCh37
NC_000011.8:g.17365541_17365542insG NCBI36
NG_012446.1:g.6241_6242insC

Transcript Alleles

HGVS Amino-acid Change
ENST00000682350.1:c.412_413insC ENSP00000508090.1:p.Ser138ThrfsTer?
ENST00000682764.1:c.412_413insC ENSP00000506780.1:p.Ser138ThrfsTer?
ENST00000339994.5:c.673_674insC MANE Select ENSP00000345708.4:p.Ser225ThrfsTer?
ENST00000339994.4:c.673_674insC ENSP00000345708.4:p.Ser225ThrfsTer?
ENST00000526912.1:c.412_413insC ENSP00000432729.1:p.Ser138ThrfsTer?
ENST00000528731.1:c.412_413insC ENSP00000434755.1:p.Ser138ThrfsTer?
NM_000525.3:c.673_674insC NP_000516.3:p.Ser225ThrfsTer?
NM_001166290.1:c.412_413insC NP_001159762.1:p.Ser138ThrfsTer?
XM_006718226.2:c.412_413insC XP_006718289.1:p.Ser138ThrfsTer?
XR_930867.1:n.831_832insC
XM_006718226.3:c.412_413insC XP_006718289.1:p.Ser138ThrfsTer?
XM_017017680.1:c.412_413insC XP_016873169.1:p.Ser138ThrfsTer?
NM_001166290.2:c.412_413insC NP_001159762.1:p.Ser138ThrfsTer?
NM_001377296.1:c.412_413insC NP_001364225.1:p.Ser138ThrfsTer?
NM_001377297.1:c.412_413insC NP_001364226.1:p.Ser138ThrfsTer?
NM_000525.4:c.673_674insC MANE Select NP_000516.3:p.Ser225ThrfsTer?