Canonical Allele Identifier: CA2640267880

Gene: CCDC40

Linked Data

• gnomAD v4: 17-80099938-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80099940del , CM000679.2:g.80099940del	GRCh38
NC_000017.10:g.78073739del , CM000679.1:g.78073739del	GRCh37
NC_000017.9:g.75688334del	NCBI36
NG_009822.1:g.3385del , LRG_673:g.3385del
NG_029761.1:g.68309del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397545.9:c.*165del MANE Select	ENSP00000380679.4:n.*165del
ENST00000397545.8:c.*165del	ENSP00000380679.4:n.*165del
ENST00000574799.5:n.3131del
NM_017950.3:c.*165del	NP_060420.2:n.*165del
XM_011524963.1:c.*165del	XP_011523265.1:n.*165del
XM_011524964.1:c.*165del	XP_011523266.1:n.*165del
XM_011524963.3:c.*165del	XP_011523265.1:n.*165del
XM_011524964.3:c.*165del	XP_011523266.1:n.*165del
XM_024450821.1:c.*165del	XP_024306589.1:n.*165del
XR_934495.2:n.3712del
NM_017950.4:c.*165del MANE Select	NP_060420.2:n.*165del