Canonical Allele Identifier: CA1955119053
Gene: KCNJ11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17386966_17386971del , CM000673.2:g.17386966_17386971del GRCh38
NC_000011.9:g.17408513_17408518del , CM000673.1:g.17408513_17408518del GRCh37
NC_000011.8:g.17365089_17365094del NCBI36
NG_012446.1:g.6692_6697del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682350.1:c.863_868del ENSP00000508090.1:p.Met288_Ala289del
ENST00000682764.1:c.863_868del ENSP00000506780.1:p.Met288_Ala289del
ENST00000339994.5:c.1124_1129del MANE Select ENSP00000345708.4:p.Met375_Ala376del
ENST00000339994.4:c.1124_1129del ENSP00000345708.4:p.Met375_Ala376del
ENST00000528731.1:c.863_868del ENSP00000434755.1:p.Met288_Ala289del
NM_000525.3:c.1124_1129del NP_000516.3:p.Met375_Ala376del
NM_001166290.1:c.863_868del NP_001159762.1:p.Met288_Ala289del
XM_006718226.2:c.863_868del XP_006718289.1:p.Met288_Ala289del
XR_930867.1:n.1282_1287del
XM_006718226.3:c.863_868del XP_006718289.1:p.Met288_Ala289del
XM_017017680.1:c.863_868del XP_016873169.1:p.Met288_Ala289del
NM_001166290.2:c.863_868del NP_001159762.1:p.Met288_Ala289del
NM_001377296.1:c.863_868del NP_001364225.1:p.Met288_Ala289del
NM_001377297.1:c.863_868del NP_001364226.1:p.Met288_Ala289del
NM_000525.4:c.1124_1129del MANE Select NP_000516.3:p.Met375_Ala376del