Canonical Allele Identifier: CA2326170020
Gene: IL12RB1 HGNC NCBI

Linked Data

dbSNP Id: rs971434907

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18069921del , CM000681.2:g.18069921del GRCh38
NC_000019.9:g.18180731del , CM000681.1:g.18180731del GRCh37
NC_000019.8:g.18041731del NCBI36
NG_007366.2:g.34037del , LRG_72:g.34037del

Transcript Alleles

HGVS Amino-acid Change
ENST00000593993.7:c.1022-200del MANE Select ENSP00000472165.2:n.1022-200del
ENST00000593993.6:c.1022-200del ENSP00000472165.2:n.1022-200del
ENST00000600835.6:c.1022-200del ENSP00000470788.1:n.1022-200del
NM_001290023.1:c.1022-200del NP_001276952.1:n.1022-200del
NM_001290024.1:c.1142-200del NP_001276953.1:n.1142-200del
NM_005535.2:c.1022-200del NP_005526.1:n.1022-200del
XM_006722741.2:c.1142-200del XP_006722804.2:n.1142-200del
XM_011527966.1:c.1175-200del XP_011526268.1:n.1175-200del
XM_011527967.1:c.1163-200del XP_011526269.1:n.1163-200del
XM_011527968.1:c.1154-200del XP_011526270.1:n.1154-200del
XM_011527969.1:c.1142-200del XP_011526271.1:n.1142-200del
XM_011527970.1:c.1175-200del XP_011526272.1:n.1175-200del
XM_011527971.1:c.1175-200del XP_011526273.1:n.1175-200del
XM_011527972.1:c.1175-200del XP_011526274.1:n.1175-200del
XM_011527973.1:c.1055-200del XP_011526275.1:n.1055-200del
XM_011527974.1:c.1043-200del XP_011526276.1:n.1043-200del
XM_011527975.1:c.1142-200del XP_011526277.1:n.1142-200del
XM_011527976.1:c.1175-200del XP_011526278.1:n.1175-200del
XM_006722741.3:c.1142-200del XP_006722804.2:n.1142-200del
XM_011527966.2:c.1175-200del XP_011526268.1:n.1175-200del
XM_011527967.2:c.1163-200del XP_011526269.1:n.1163-200del
XM_011527968.3:c.1154-200del XP_011526270.1:n.1154-200del
XM_011527969.2:c.1142-200del XP_011526271.1:n.1142-200del
XM_011527970.2:c.1175-200del XP_011526272.1:n.1175-200del
XM_011527971.3:c.1175-200del XP_011526273.1:n.1175-200del
XM_011527972.3:c.1175-200del XP_011526274.1:n.1175-200del
XM_011527973.2:c.1055-200del XP_011526275.1:n.1055-200del
XM_011527974.2:c.1043-200del XP_011526276.1:n.1043-200del
XM_011527975.2:c.1142-200del XP_011526277.1:n.1142-200del
XM_011527976.2:c.1175-200del XP_011526278.1:n.1175-200del
XM_017026762.1:c.440-200del XP_016882251.1:n.440-200del
NM_001290023.2:c.1022-200del NP_001276952.1:n.1022-200del
NM_005535.3:c.1022-200del MANE Select NP_005526.1:n.1022-200del