Canonical Allele Identifier: CA2583510366

Gene: IL12RB1

Linked Data

• gnomAD v4: 19-18069799-CCCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18069801_18069803del , CM000681.2:g.18069801_18069803del	GRCh38
NC_000019.9:g.18180611_18180613del , CM000681.1:g.18180611_18180613del	GRCh37
NC_000019.8:g.18041611_18041613del	NCBI36
NG_007366.2:g.34148_34150del , LRG_72:g.34148_34150del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593993.7:c.1022-89_1022-87del MANE Select	ENSP00000472165.2:n.1022-89_1022-87del
ENST00000593993.6:c.1022-89_1022-87del	ENSP00000472165.2:n.1022-89_1022-87del
ENST00000600835.6:c.1022-89_1022-87del	ENSP00000470788.1:n.1022-89_1022-87del
NM_001290023.1:c.1022-89_1022-87del	NP_001276952.1:n.1022-89_1022-87del
NM_001290024.1:c.1142-89_1142-87del	NP_001276953.1:n.1142-89_1142-87del
NM_005535.2:c.1022-89_1022-87del	NP_005526.1:n.1022-89_1022-87del
XM_006722741.2:c.1142-89_1142-87del	XP_006722804.2:n.1142-89_1142-87del
XM_011527966.1:c.1175-89_1175-87del	XP_011526268.1:n.1175-89_1175-87del
XM_011527967.1:c.1163-89_1163-87del	XP_011526269.1:n.1163-89_1163-87del
XM_011527968.1:c.1154-89_1154-87del	XP_011526270.1:n.1154-89_1154-87del
XM_011527969.1:c.1142-89_1142-87del	XP_011526271.1:n.1142-89_1142-87del
XM_011527970.1:c.1175-89_1175-87del	XP_011526272.1:n.1175-89_1175-87del
XM_011527971.1:c.1175-89_1175-87del	XP_011526273.1:n.1175-89_1175-87del
XM_011527972.1:c.1175-89_1175-87del	XP_011526274.1:n.1175-89_1175-87del
XM_011527973.1:c.1055-89_1055-87del	XP_011526275.1:n.1055-89_1055-87del
XM_011527974.1:c.1043-89_1043-87del	XP_011526276.1:n.1043-89_1043-87del
XM_011527975.1:c.1142-89_1142-87del	XP_011526277.1:n.1142-89_1142-87del
XM_011527976.1:c.1175-89_1175-87del	XP_011526278.1:n.1175-89_1175-87del
XM_006722741.3:c.1142-89_1142-87del	XP_006722804.2:n.1142-89_1142-87del
XM_011527966.2:c.1175-89_1175-87del	XP_011526268.1:n.1175-89_1175-87del
XM_011527967.2:c.1163-89_1163-87del	XP_011526269.1:n.1163-89_1163-87del
XM_011527968.3:c.1154-89_1154-87del	XP_011526270.1:n.1154-89_1154-87del
XM_011527969.2:c.1142-89_1142-87del	XP_011526271.1:n.1142-89_1142-87del
XM_011527970.2:c.1175-89_1175-87del	XP_011526272.1:n.1175-89_1175-87del
XM_011527971.3:c.1175-89_1175-87del	XP_011526273.1:n.1175-89_1175-87del
XM_011527972.3:c.1175-89_1175-87del	XP_011526274.1:n.1175-89_1175-87del
XM_011527973.2:c.1055-89_1055-87del	XP_011526275.1:n.1055-89_1055-87del
XM_011527974.2:c.1043-89_1043-87del	XP_011526276.1:n.1043-89_1043-87del
XM_011527975.2:c.1142-89_1142-87del	XP_011526277.1:n.1142-89_1142-87del
XM_011527976.2:c.1175-89_1175-87del	XP_011526278.1:n.1175-89_1175-87del
XM_017026762.1:c.440-89_440-87del	XP_016882251.1:n.440-89_440-87del
NM_001290023.2:c.1022-89_1022-87del	NP_001276952.1:n.1022-89_1022-87del
NM_005535.3:c.1022-89_1022-87del MANE Select	NP_005526.1:n.1022-89_1022-87del