Canonical Allele Identifier: CA2580613090

Gene: IL12RB1

Linked Data

• ClinVar Variation Id: 155909
• ClinVar RCV Id: RCV000144042
• dbSNP Id: rs2146215644

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18069673_18069675del , CM000681.2:g.18069673_18069675del	GRCh38
NC_000019.9:g.18180483_18180485del , CM000681.1:g.18180483_18180485del	GRCh37
NC_000019.8:g.18041483_18041485del	NCBI36
NG_007366.2:g.34279_34281del , LRG_72:g.34279_34281del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593993.7:c.1064_1066del MANE Select	ENSP00000472165.2:p.Thr355del
ENST00000593993.6:c.1064_1066del	ENSP00000472165.2:p.Thr355del
ENST00000600835.6:c.1064_1066del	ENSP00000470788.1:p.Thr355del
NM_001290023.1:c.1064_1066del	NP_001276952.1:p.Thr355del
NM_001290024.1:c.1184_1186del	NP_001276953.1:p.Thr395del
NM_005535.2:c.1064_1066del	NP_005526.1:p.Thr355del
XM_006722741.2:c.1184_1186del	XP_006722804.2:p.Thr395del
XM_011527966.1:c.1217_1219del	XP_011526268.1:p.Thr406del
XM_011527967.1:c.1205_1207del	XP_011526269.1:p.Thr402del
XM_011527968.1:c.1196_1198del	XP_011526270.1:p.Thr399del
XM_011527969.1:c.1184_1186del	XP_011526271.1:p.Thr395del
XM_011527970.1:c.1217_1219del	XP_011526272.1:p.Thr406del
XM_011527971.1:c.1217_1219del	XP_011526273.1:p.Thr406del
XM_011527972.1:c.1217_1219del	XP_011526274.1:p.Thr406del
XM_011527973.1:c.1097_1099del	XP_011526275.1:p.Thr366del
XM_011527974.1:c.1085_1087del	XP_011526276.1:p.Thr362del
XM_011527975.1:c.1184_1186del	XP_011526277.1:p.Thr395del
XM_011527976.1:c.1217_1219del	XP_011526278.1:p.Thr406del
XM_006722741.3:c.1184_1186del	XP_006722804.2:p.Thr395del
XM_011527966.2:c.1217_1219del	XP_011526268.1:p.Thr406del
XM_011527967.2:c.1205_1207del	XP_011526269.1:p.Thr402del
XM_011527968.3:c.1196_1198del	XP_011526270.1:p.Thr399del
XM_011527969.2:c.1184_1186del	XP_011526271.1:p.Thr395del
XM_011527970.2:c.1217_1219del	XP_011526272.1:p.Thr406del
XM_011527971.3:c.1217_1219del	XP_011526273.1:p.Thr406del
XM_011527972.3:c.1217_1219del	XP_011526274.1:p.Thr406del
XM_011527973.2:c.1097_1099del	XP_011526275.1:p.Thr366del
XM_011527974.2:c.1085_1087del	XP_011526276.1:p.Thr362del
XM_011527975.2:c.1184_1186del	XP_011526277.1:p.Thr395del
XM_011527976.2:c.1217_1219del	XP_011526278.1:p.Thr406del
XM_017026762.1:c.482_484del	XP_016882251.1:p.Thr161del
NM_001290023.2:c.1064_1066del	NP_001276952.1:p.Thr355del
NM_005535.3:c.1064_1066del MANE Select	NP_005526.1:p.Thr355del