Canonical Allele Identifier: CA2653133155

Gene: CD40

Linked Data

• gnomAD v4: 20-46128244-G-GGTGAAGT

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46128247_46128248insAAGTGTG , CM000682.2:g.46128247_46128248insAAGTGTG	GRCh38
NC_000020.10:g.44756886_44756887insAAGTGTG , CM000682.1:g.44756886_44756887insAAGTGTG	GRCh37
NC_000020.9:g.44190293_44190294insAAGTGTG	NCBI36
NG_007279.1:g.14981_14982insAAGTGTG , LRG_40:g.14981_14982insAAGTGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477696.6:c.648+23_648+24insAAGTGTG	ENSP00000512095.1:n.648+23_648+24insAAGTGTG
ENST00000489304.6:c.729+23_729+24insAAGTGTG	ENSP00000512096.1:n.729+23_729+24insAAGTGTG
ENST00000695670.1:n.627+11_627+12insAAGTGTG
ENST00000695671.1:c.686+23_686+24insAAGTGTG	ENSP00000512093.1:n.686+23_686+24insAAGTGTG
ENST00000695674.1:n.1125+23_1125+24insAAGTGTG
ENST00000695675.1:n.2522+23_2522+24insAAGTGTG
ENST00000372285.8:c.646+23_646+24insAAGTGTG MANE Select	ENSP00000361359.3:n.646+23_646+24insAAGTGTG
ENST00000372276.7:c.584+23_584+24insAAGTGTG	ENSP00000361350.3:n.584+23_584+24insAAGTGTG
ENST00000372285.7:c.646+23_646+24insAAGTGTG	ENSP00000361359.3:n.646+23_646+24insAAGTGTG
ENST00000466205.5:c.548+23_548+24insAAGTGTG
ENST00000477696.5:n.619+23_619+24insAAGTGTG
ENST00000489304.5:n.722+23_722+24insAAGTGTG
ENST00000620709.4:c.*193+23_*193+24insAAGTGTG	ENSP00000484074.1:n.*193+23_*193+24insAAGTGTG
NM_001250.5:c.646+23_646+24insAAGTGTG	NP_001241.1:n.646+23_646+24insAAGTGTG
NM_001302753.1:c.686+23_686+24insAAGTGTG	NP_001289682.1:n.686+23_686+24insAAGTGTG
NM_152854.3:c.584+23_584+24insAAGTGTG	NP_690593.1:n.584+23_584+24insAAGTGTG
NR_126502.1:n.739+23_739+24insAAGTGTG
XM_005260617.2:c.658+11_658+12insAAGTGTG	XP_005260674.1:n.658+11_658+12insAAGTGTG
XM_005260619.2:c.502+11_502+12insAAGTGTG	XP_005260676.1:n.502+11_502+12insAAGTGTG
XR_936660.1:n.646+23_646+24insAAGTGTG
NM_001322421.1:c.658+11_658+12insAAGTGTG	NP_001309350.1:n.658+11_658+12insAAGTGTG
NM_001322422.1:c.490+23_490+24insAAGTGTG	NP_001309351.1:n.490+23_490+24insAAGTGTG
NM_001362758.1:c.646+23_646+24insAAGTGTG	NP_001349687.1:n.646+23_646+24insAAGTGTG
NR_136327.1:n.642+23_642+24insAAGTGTG
XM_005260619.3:c.502+11_502+12insAAGTGTG	XP_005260676.1:n.502+11_502+12insAAGTGTG
XM_017028135.1:c.686+23_686+24insAAGTGTG	XP_016883624.1:n.686+23_686+24insAAGTGTG
XM_017028136.1:c.584+23_584+24insAAGTGTG	XP_016883625.1:n.584+23_584+24insAAGTGTG
NM_001250.6:c.646+23_646+24insAAGTGTG MANE Select	NP_001241.1:n.646+23_646+24insAAGTGTG
NM_001302753.2:c.686+23_686+24insAAGTGTG	NP_001289682.1:n.686+23_686+24insAAGTGTG
NM_001322421.2:c.658+11_658+12insAAGTGTG	NP_001309350.1:n.658+11_658+12insAAGTGTG
NM_001322422.2:c.490+23_490+24insAAGTGTG	NP_001309351.1:n.490+23_490+24insAAGTGTG
NM_001362758.2:c.646+23_646+24insAAGTGTG	NP_001349687.1:n.646+23_646+24insAAGTGTG
NM_152854.4:c.584+23_584+24insAAGTGTG	NP_690593.1:n.584+23_584+24insAAGTGTG
NR_126502.2:n.679+23_679+24insAAGTGTG
NR_136327.2:n.582+23_582+24insAAGTGTG