Canonical Allele Identifier: CA2695228475
Gene: IL12RB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18069565del , CM000681.2:g.18069565del GRCh38
NC_000019.9:g.18180375del , CM000681.1:g.18180375del GRCh37
NC_000019.8:g.18041375del NCBI36
NG_007366.2:g.34387del , LRG_72:g.34387del

Transcript Alleles

HGVS Amino-acid Change
ENST00000593993.7:c.1172del MANE Select ENSP00000472165.2:p.Pro391ArgfsTer?
ENST00000593993.6:c.1172del ENSP00000472165.2:p.Pro391ArgfsTer?
ENST00000600835.6:c.1172del ENSP00000470788.1:p.Pro391ArgfsTer?
NM_001290023.1:c.1172del NP_001276952.1:p.Pro391ArgfsTer?
NM_001290024.1:c.1292del NP_001276953.1:p.Pro431ArgfsTer?
NM_005535.2:c.1172del NP_005526.1:p.Pro391ArgfsTer?
XM_006722741.2:c.1292del XP_006722804.2:p.Pro431ArgfsTer?
XM_011527966.1:c.1325del XP_011526268.1:p.Pro442ArgfsTer?
XM_011527967.1:c.1313del XP_011526269.1:p.Pro438ArgfsTer?
XM_011527968.1:c.1304del XP_011526270.1:p.Pro435ArgfsTer?
XM_011527969.1:c.1292del XP_011526271.1:p.Pro431ArgfsTer?
XM_011527970.1:c.1325del XP_011526272.1:p.Pro442ArgfsTer?
XM_011527971.1:c.1325del XP_011526273.1:p.Pro442ArgfsTer?
XM_011527972.1:c.1325del XP_011526274.1:p.Pro442ArgfsTer?
XM_011527973.1:c.1205del XP_011526275.1:p.Pro402ArgfsTer?
XM_011527974.1:c.1193del XP_011526276.1:p.Pro398ArgfsTer?
XM_011527975.1:c.1292del XP_011526277.1:p.Pro431ArgfsTer?
XM_011527976.1:c.1325del XP_011526278.1:p.Pro442ArgfsTer?
XM_006722741.3:c.1292del XP_006722804.2:p.Pro431ArgfsTer?
XM_011527966.2:c.1325del XP_011526268.1:p.Pro442ArgfsTer?
XM_011527967.2:c.1313del XP_011526269.1:p.Pro438ArgfsTer?
XM_011527968.3:c.1304del XP_011526270.1:p.Pro435ArgfsTer?
XM_011527969.2:c.1292del XP_011526271.1:p.Pro431ArgfsTer?
XM_011527970.2:c.1325del XP_011526272.1:p.Pro442ArgfsTer?
XM_011527971.3:c.1325del XP_011526273.1:p.Pro442ArgfsTer?
XM_011527972.3:c.1325del XP_011526274.1:p.Pro442ArgfsTer?
XM_011527973.2:c.1205del XP_011526275.1:p.Pro402ArgfsTer?
XM_011527974.2:c.1193del XP_011526276.1:p.Pro398ArgfsTer?
XM_011527975.2:c.1292del XP_011526277.1:p.Pro431ArgfsTer?
XM_011527976.2:c.1325del XP_011526278.1:p.Pro442ArgfsTer?
XM_017026762.1:c.590del XP_016882251.1:p.Pro197ArgfsTer?
NM_001290023.2:c.1172del NP_001276952.1:p.Pro391ArgfsTer?
NM_005535.3:c.1172del MANE Select NP_005526.1:p.Pro391ArgfsTer?