Canonical Allele Identifier: CA9888653
Gene: CD40 HGNC NCBI

Linked Data

dbSNP Id: rs761411842

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.46128893_46128907dup , CM000682.2:g.46128893_46128907dup GRCh38
NC_000020.10:g.44757532_44757546dup , CM000682.1:g.44757532_44757546dup GRCh37
NC_000020.9:g.44190939_44190953dup NCBI36
NG_007279.1:g.15627_15641dup , LRG_40:g.15627_15641dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000477696.6:c.689_703dup ENSP00000512095.1:n.689_703dup
ENST00000489304.6:c.770_784dup ENSP00000512096.1:n.770_784dup
ENST00000695675.1:n.2563_2577dup
ENST00000372285.8:c.687_701dup MANE Select ENSP00000361359.3:p.Pro233_Gln234insHisLysGlnGluPro
ENST00000372276.7:c.*13_*27dup ENSP00000361350.3:n.*13_*27dup
ENST00000372285.7:c.687_701dup ENSP00000361359.3:p.Pro233_Gln234insHisLysGlnGluPro
ENST00000466205.5:c.589_603dup
ENST00000477696.5:n.660_674dup
ENST00000489304.5:n.763_777dup
ENST00000620709.4:c.*234_*248dup ENSP00000484074.1:n.*234_*248dup
NM_001250.5:c.687_701dup NP_001241.1:p.Pro233_Gln234insHisLysGlnGluPro
NM_001302753.1:c.*13_*27dup NP_001289682.1:n.*13_*27dup
NM_152854.3:c.*13_*27dup NP_690593.1:n.*13_*27dup
NR_126502.1:n.780_794dup
XM_005260617.2:c.699_713dup XP_005260674.1:p.Pro237_Gln238insHisLysGlnGluPro
XM_005260619.2:c.543_557dup XP_005260676.1:p.Pro185_Gln186insHisLysGlnGluPro
XR_936660.1:n.687_701dup
NM_001322421.1:c.699_713dup NP_001309350.1:p.Pro237_Gln238insHisLysGlnGluPro
NM_001322422.1:c.531_545dup NP_001309351.1:p.Pro181_Gln182insHisLysGlnGluPro
NM_001362758.1:c.*13_*27dup NP_001349687.1:n.*13_*27dup
NR_136327.1:n.683_697dup
XM_005260619.3:c.543_557dup XP_005260676.1:p.Pro185_Gln186insHisLysGlnGluPro
XM_017028135.1:c.722_736dup XP_016883624.1:p.Pro245_Arg246insThrSerArgAsnPro
XM_017028136.1:c.620_634dup XP_016883625.1:p.Pro211_Arg212insThrSerArgAsnPro
NM_001250.6:c.687_701dup MANE Select NP_001241.1:p.Pro233_Gln234insHisLysGlnGluPro
NM_001302753.2:c.*13_*27dup NP_001289682.1:n.*13_*27dup
NM_001322421.2:c.699_713dup NP_001309350.1:p.Pro237_Gln238insHisLysGlnGluPro
NM_001322422.2:c.531_545dup NP_001309351.1:p.Pro181_Gln182insHisLysGlnGluPro
NM_001362758.2:c.*13_*27dup NP_001349687.1:n.*13_*27dup
NM_152854.4:c.*13_*27dup NP_690593.1:n.*13_*27dup
NR_126502.2:n.720_734dup
NR_136327.2:n.623_637dup