Canonical Allele Identifier: CA1955119374
Gene: KCNJ11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17387739_17387742delinsGAGA , CM000673.2:g.17387739_17387742delinsGAGA GRCh38
NC_000011.9:g.17409286_17409289delinsGAGA , CM000673.1:g.17409286_17409289delinsGAGA GRCh37
NC_000011.8:g.17365862_17365865delinsGAGA NCBI36
NG_012446.1:g.5918_5921delinsTCTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000528992.2:c.122_125delinsTCTC ENSP00000436479.2:p.Phe41=
ENST00000682350.1:c.89_92delinsTCTC ENSP00000508090.1:p.Phe30=
ENST00000682764.1:c.89_92delinsTCTC ENSP00000506780.1:p.Phe30=
ENST00000339994.5:c.350_353delinsTCTC MANE Select ENSP00000345708.4:p.Phe117=
ENST00000339994.4:c.350_353delinsTCTC ENSP00000345708.4:p.Phe117=
ENST00000526912.1:c.89_92delinsTCTC ENSP00000432729.1:p.Phe30=
ENST00000528731.1:c.89_92delinsTCTC ENSP00000434755.1:p.Phe30=
ENST00000528992.1:c.367_370delinsTCTC
NM_000525.3:c.350_353delinsTCTC NP_000516.3:p.Phe117=
NM_001166290.1:c.89_92delinsTCTC NP_001159762.1:p.Phe30=
XM_006718226.2:c.89_92delinsTCTC XP_006718289.1:p.Phe30=
XR_930867.1:n.508_511delinsTCTC
XM_006718226.3:c.89_92delinsTCTC XP_006718289.1:p.Phe30=
XM_017017680.1:c.89_92delinsTCTC XP_016873169.1:p.Phe30=
NM_001166290.2:c.89_92delinsTCTC NP_001159762.1:p.Phe30=
NM_001377296.1:c.89_92delinsTCTC NP_001364225.1:p.Phe30=
NM_001377297.1:c.89_92delinsTCTC NP_001364226.1:p.Phe30=
NM_000525.4:c.350_353delinsTCTC MANE Select NP_000516.3:p.Phe117=