Canonical Allele Identifier: CA2583510270

Gene: IL12RB1

Linked Data

• gnomAD v4: 19-18069524-GCAGGCCATTC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18069534_18069543del , CM000681.2:g.18069534_18069543del	GRCh38
NC_000019.9:g.18180344_18180353del , CM000681.1:g.18180344_18180353del	GRCh37
NC_000019.8:g.18041344_18041353del	NCBI36
NG_007366.2:g.34416_34425del , LRG_72:g.34416_34425del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593993.7:c.1189+12_1189+21del MANE Select	ENSP00000472165.2:n.1189+12_1189+21del
ENST00000593993.6:c.1189+12_1189+21del	ENSP00000472165.2:n.1189+12_1189+21del
ENST00000600835.6:c.1189+12_1189+21del	ENSP00000470788.1:n.1189+12_1189+21del
NM_001290023.1:c.1189+12_1189+21del	NP_001276952.1:n.1189+12_1189+21del
NM_001290024.1:c.1309+12_1309+21del	NP_001276953.1:n.1309+12_1309+21del
NM_005535.2:c.1189+12_1189+21del	NP_005526.1:n.1189+12_1189+21del
XM_006722741.2:c.1309+12_1309+21del	XP_006722804.2:n.1309+12_1309+21del
XM_011527966.1:c.1342+12_1342+21del	XP_011526268.1:n.1342+12_1342+21del
XM_011527967.1:c.1330+12_1330+21del	XP_011526269.1:n.1330+12_1330+21del
XM_011527968.1:c.1321+12_1321+21del	XP_011526270.1:n.1321+12_1321+21del
XM_011527969.1:c.1309+12_1309+21del	XP_011526271.1:n.1309+12_1309+21del
XM_011527970.1:c.1342+12_1342+21del	XP_011526272.1:n.1342+12_1342+21del
XM_011527971.1:c.1342+12_1342+21del	XP_011526273.1:n.1342+12_1342+21del
XM_011527972.1:c.1342+12_1342+21del	XP_011526274.1:n.1342+12_1342+21del
XM_011527973.1:c.1222+12_1222+21del	XP_011526275.1:n.1222+12_1222+21del
XM_011527974.1:c.1210+12_1210+21del	XP_011526276.1:n.1210+12_1210+21del
XM_011527975.1:c.1309+12_1309+21del	XP_011526277.1:n.1309+12_1309+21del
XM_011527976.1:c.1342+12_1342+21del	XP_011526278.1:n.1342+12_1342+21del
XM_006722741.3:c.1309+12_1309+21del	XP_006722804.2:n.1309+12_1309+21del
XM_011527966.2:c.1342+12_1342+21del	XP_011526268.1:n.1342+12_1342+21del
XM_011527967.2:c.1330+12_1330+21del	XP_011526269.1:n.1330+12_1330+21del
XM_011527968.3:c.1321+12_1321+21del	XP_011526270.1:n.1321+12_1321+21del
XM_011527969.2:c.1309+12_1309+21del	XP_011526271.1:n.1309+12_1309+21del
XM_011527970.2:c.1342+12_1342+21del	XP_011526272.1:n.1342+12_1342+21del
XM_011527971.3:c.1342+12_1342+21del	XP_011526273.1:n.1342+12_1342+21del
XM_011527972.3:c.1342+12_1342+21del	XP_011526274.1:n.1342+12_1342+21del
XM_011527973.2:c.1222+12_1222+21del	XP_011526275.1:n.1222+12_1222+21del
XM_011527974.2:c.1210+12_1210+21del	XP_011526276.1:n.1210+12_1210+21del
XM_011527975.2:c.1309+12_1309+21del	XP_011526277.1:n.1309+12_1309+21del
XM_011527976.2:c.1342+12_1342+21del	XP_011526278.1:n.1342+12_1342+21del
XM_017026762.1:c.607+12_607+21del	XP_016882251.1:n.607+12_607+21del
NM_001290023.2:c.1189+12_1189+21del	NP_001276952.1:n.1189+12_1189+21del
NM_005535.3:c.1189+12_1189+21del MANE Select	NP_005526.1:n.1189+12_1189+21del