Canonical Allele Identifier: CA2695228486
Gene: IL12RB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18075805_18075821dup , CM000681.2:g.18075805_18075821dup GRCh38
NC_000019.9:g.18186615_18186631dup , CM000681.1:g.18186615_18186631dup GRCh37
NC_000019.8:g.18047615_18047631dup NCBI36
NG_007366.2:g.28129_28145dup , LRG_72:g.28129_28145dup

Transcript Alleles

HGVS Amino-acid change
ENST00000593993.7:c.628_644dup MANE Select ENSP00000472165.2:p.Gly216SerfsTer32
ENST00000322153.11:c.628_644dup ENSP00000314425.5:p.Gly216SerfsTer32
ENST00000593993.6:c.628_644dup ENSP00000472165.2:p.Gly216SerfsTer32
ENST00000600835.6:c.628_644dup ENSP00000470788.1:p.Gly216SerfsTer32
NM_001290023.1:c.628_644dup NP_001276952.1:p.Gly216SerfsTer32
NM_001290024.1:c.748_764dup NP_001276953.1:p.Gly256SerfsTer32
NM_005535.2:c.628_644dup NP_005526.1:p.Gly216SerfsTer32
NM_153701.2:c.628_644dup NP_714912.1:p.Gly216SerfsTer32
XM_006722741.2:c.748_764dup XP_006722804.2:p.Gly256SerfsTer32
XM_011527966.1:c.760_776dup XP_011526268.1:p.Gly260SerfsTer29
XM_011527967.1:c.748_764dup XP_011526269.1:p.Gly256SerfsTer29
XM_011527968.1:c.760_776dup XP_011526270.1:p.Gly260SerfsTer32
XM_011527969.1:c.748_764dup XP_011526271.1:p.Gly256SerfsTer32
XM_011527970.1:c.760_776dup XP_011526272.1:p.Gly260SerfsTer29
XM_011527971.1:c.760_776dup XP_011526273.1:p.Gly260SerfsTer29
XM_011527972.1:c.760_776dup XP_011526274.1:p.Gly260SerfsTer29
XM_011527973.1:c.640_656dup XP_011526275.1:p.Gly220SerfsTer29
XM_011527974.1:c.628_644dup XP_011526276.1:p.Gly216SerfsTer29
XM_011527975.1:c.748_764dup XP_011526277.1:p.Gly256SerfsTer32
XM_011527976.1:c.760_776dup XP_011526278.1:p.Gly260SerfsTer29
XM_011527977.1:c.748_764dup XP_011526279.1:p.Gly256SerfsTer32
XM_006722741.3:c.748_764dup XP_006722804.2:p.Gly256SerfsTer32
XM_011527966.2:c.760_776dup XP_011526268.1:p.Gly260SerfsTer29
XM_011527967.2:c.748_764dup XP_011526269.1:p.Gly256SerfsTer29
XM_011527968.3:c.760_776dup XP_011526270.1:p.Gly260SerfsTer32
XM_011527969.2:c.748_764dup XP_011526271.1:p.Gly256SerfsTer32
XM_011527970.2:c.760_776dup XP_011526272.1:p.Gly260SerfsTer29
XM_011527971.3:c.760_776dup XP_011526273.1:p.Gly260SerfsTer29
XM_011527972.3:c.760_776dup XP_011526274.1:p.Gly260SerfsTer29
XM_011527973.2:c.640_656dup XP_011526275.1:p.Gly220SerfsTer29
XM_011527974.2:c.628_644dup XP_011526276.1:p.Gly216SerfsTer29
XM_011527975.2:c.748_764dup XP_011526277.1:p.Gly256SerfsTer32
XM_011527976.2:c.760_776dup XP_011526278.1:p.Gly260SerfsTer29
XM_011527977.2:c.748_764dup XP_011526279.1:p.Gly256SerfsTer32
XM_017026762.1:c.25_41dup XP_016882251.1:p.Gly15SerfsTer29
NM_001290023.2:c.628_644dup NP_001276952.1:p.Gly216SerfsTer32
NM_005535.3:c.628_644dup MANE Select NP_005526.1:p.Gly216SerfsTer32
NM_153701.3:c.628_644dup NP_714912.1:p.Gly216SerfsTer32