Canonical Allele Identifier: CA2366533714

Gene: CD40

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46128886_46128889delinsCCCA , CM000682.2:g.46128886_46128889delinsCCCA	GRCh38
NC_000020.10:g.44757525_44757528delinsCCCA , CM000682.1:g.44757525_44757528delinsCCCA	GRCh37
NC_000020.9:g.44190932_44190935delinsCCCA	NCBI36
NG_007279.1:g.15620_15623delinsCCCA , LRG_40:g.15620_15623delinsCCCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000477696.6:c.682_685delinsCCCA	ENSP00000512095.1:n.682_685delinsCCCA
ENST00000489304.6:c.763_766delinsCCCA	ENSP00000512096.1:n.763_766delinsCCCA
ENST00000695675.1:n.2556_2559delinsCCCA
ENST00000372285.8:c.680_683delinsCCCA MANE Select	ENSP00000361359.3:p.Pro227=
ENST00000372276.7:c.*6_*9delinsCCCA	ENSP00000361350.3:n.*6_*9delinsCCCA
ENST00000372285.7:c.680_683delinsCCCA	ENSP00000361359.3:p.Pro227=
ENST00000466205.5:c.582_585delinsCCCA
ENST00000477696.5:n.653_656delinsCCCA
ENST00000489304.5:n.756_759delinsCCCA
ENST00000620709.4:c.*227_*230delinsCCCA	ENSP00000484074.1:n.*227_*230delinsCCCA
NM_001250.5:c.680_683delinsCCCA	NP_001241.1:p.Pro227=
NM_001302753.1:c.*6_*9delinsCCCA	NP_001289682.1:n.*6_*9delinsCCCA
NM_152854.3:c.*6_*9delinsCCCA	NP_690593.1:n.*6_*9delinsCCCA
NR_126502.1:n.773_776delinsCCCA
XM_005260617.2:c.692_695delinsCCCA	XP_005260674.1:p.Pro231=
XM_005260619.2:c.536_539delinsCCCA	XP_005260676.1:p.Pro179=
XR_936660.1:n.680_683delinsCCCA
NM_001322421.1:c.692_695delinsCCCA	NP_001309350.1:p.Pro231=
NM_001322422.1:c.524_527delinsCCCA	NP_001309351.1:p.Pro175=
NM_001362758.1:c.*6_*9delinsCCCA	NP_001349687.1:n.*6_*9delinsCCCA
NR_136327.1:n.676_679delinsCCCA
XM_005260619.3:c.536_539delinsCCCA	XP_005260676.1:p.Pro179=
XM_017028135.1:c.715_718delinsCCCA	XP_016883624.1:p.Pro239=
XM_017028136.1:c.613_616delinsCCCA	XP_016883625.1:p.Pro205=
NM_001250.6:c.680_683delinsCCCA MANE Select	NP_001241.1:p.Pro227=
NM_001302753.2:c.*6_*9delinsCCCA	NP_001289682.1:n.*6_*9delinsCCCA
NM_001322421.2:c.692_695delinsCCCA	NP_001309350.1:p.Pro231=
NM_001322422.2:c.524_527delinsCCCA	NP_001309351.1:p.Pro175=
NM_001362758.2:c.*6_*9delinsCCCA	NP_001349687.1:n.*6_*9delinsCCCA
NM_152854.4:c.*6_*9delinsCCCA	NP_690593.1:n.*6_*9delinsCCCA
NR_126502.2:n.713_716delinsCCCA
NR_136327.2:n.616_619delinsCCCA