Canonical Allele Identifier: CA2501498029
Gene: IL12RB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18069489_18069490insTT , CM000681.2:g.18069489_18069490insTT GRCh38
NC_000019.9:g.18180299_18180300insTT , CM000681.1:g.18180299_18180300insTT GRCh37
NC_000019.8:g.18041299_18041300insTT NCBI36
NG_007366.2:g.34460_34461insAA , LRG_72:g.34460_34461insAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000593993.7:c.1189+56_1189+57insAA MANE Select ENSP00000472165.2:n.1189+56_1189+57insAA
ENST00000593993.6:c.1189+56_1189+57insAA ENSP00000472165.2:n.1189+56_1189+57insAA
ENST00000600835.6:c.1189+56_1189+57insAA ENSP00000470788.1:n.1189+56_1189+57insAA
NM_001290023.1:c.1189+56_1189+57insAA NP_001276952.1:n.1189+56_1189+57insAA
NM_001290024.1:c.1309+56_1309+57insAA NP_001276953.1:n.1309+56_1309+57insAA
NM_005535.2:c.1189+56_1189+57insAA NP_005526.1:n.1189+56_1189+57insAA
XM_006722741.2:c.1309+56_1309+57insAA XP_006722804.2:n.1309+56_1309+57insAA
XM_011527966.1:c.1342+56_1342+57insAA XP_011526268.1:n.1342+56_1342+57insAA
XM_011527967.1:c.1330+56_1330+57insAA XP_011526269.1:n.1330+56_1330+57insAA
XM_011527968.1:c.1321+56_1321+57insAA XP_011526270.1:n.1321+56_1321+57insAA
XM_011527969.1:c.1309+56_1309+57insAA XP_011526271.1:n.1309+56_1309+57insAA
XM_011527970.1:c.1342+56_1342+57insAA XP_011526272.1:n.1342+56_1342+57insAA
XM_011527971.1:c.1342+56_1342+57insAA XP_011526273.1:n.1342+56_1342+57insAA
XM_011527972.1:c.1342+56_1342+57insAA XP_011526274.1:n.1342+56_1342+57insAA
XM_011527973.1:c.1222+56_1222+57insAA XP_011526275.1:n.1222+56_1222+57insAA
XM_011527974.1:c.1210+56_1210+57insAA XP_011526276.1:n.1210+56_1210+57insAA
XM_011527975.1:c.1309+56_1309+57insAA XP_011526277.1:n.1309+56_1309+57insAA
XM_011527976.1:c.1342+56_1342+57insAA XP_011526278.1:n.1342+56_1342+57insAA
XM_006722741.3:c.1309+56_1309+57insAA XP_006722804.2:n.1309+56_1309+57insAA
XM_011527966.2:c.1342+56_1342+57insAA XP_011526268.1:n.1342+56_1342+57insAA
XM_011527967.2:c.1330+56_1330+57insAA XP_011526269.1:n.1330+56_1330+57insAA
XM_011527968.3:c.1321+56_1321+57insAA XP_011526270.1:n.1321+56_1321+57insAA
XM_011527969.2:c.1309+56_1309+57insAA XP_011526271.1:n.1309+56_1309+57insAA
XM_011527970.2:c.1342+56_1342+57insAA XP_011526272.1:n.1342+56_1342+57insAA
XM_011527971.3:c.1342+56_1342+57insAA XP_011526273.1:n.1342+56_1342+57insAA
XM_011527972.3:c.1342+56_1342+57insAA XP_011526274.1:n.1342+56_1342+57insAA
XM_011527973.2:c.1222+56_1222+57insAA XP_011526275.1:n.1222+56_1222+57insAA
XM_011527974.2:c.1210+56_1210+57insAA XP_011526276.1:n.1210+56_1210+57insAA
XM_011527975.2:c.1309+56_1309+57insAA XP_011526277.1:n.1309+56_1309+57insAA
XM_011527976.2:c.1342+56_1342+57insAA XP_011526278.1:n.1342+56_1342+57insAA
XM_017026762.1:c.607+56_607+57insAA XP_016882251.1:n.607+56_607+57insAA
NM_001290023.2:c.1189+56_1189+57insAA NP_001276952.1:n.1189+56_1189+57insAA
NM_005535.3:c.1189+56_1189+57insAA MANE Select NP_005526.1:n.1189+56_1189+57insAA