Canonical Allele Identifier: CA2640286647

Gene: CCDC40

Linked Data

• gnomAD v4: 17-80059099-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80059101del , CM000679.2:g.80059101del	GRCh38
NC_000017.10:g.78032900del , CM000679.1:g.78032900del	GRCh37
NC_000017.9:g.75647495del	NCBI36
NG_029761.1:g.27470del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397545.9:c.1440+121del MANE Select	ENSP00000380679.4:n.1440+121del
ENST00000269318.9:c.1440+121del	ENSP00000269318.5:n.1440+121del
ENST00000374876.4:c.1317+450del	ENSP00000364010.4:n.1317+450del
ENST00000374877.7:c.1440+121del	ENSP00000364011.3:n.1440+121del
ENST00000397545.8:c.1440+121del	ENSP00000380679.4:n.1440+121del
ENST00000571028.1:c.56+121del
ENST00000574799.5:n.977+121del
NM_001243342.1:c.1440+121del	NP_001230271.1:n.1440+121del
NM_017950.3:c.1440+121del	NP_060420.2:n.1440+121del
XM_005257492.3:c.1440+121del	XP_005257549.1:n.1440+121del
XM_011524963.1:c.1350+121del	XP_011523265.1:n.1350+121del
XM_011524964.1:c.261+121del	XP_011523266.1:n.261+121del
XM_011524965.1:c.1440+121del	XP_011523267.1:n.1440+121del
XR_934495.1:n.1471+121del
NM_001330508.1:c.1440+121del	NP_001317437.1:n.1440+121del
XM_011524963.3:c.1350+121del	XP_011523265.1:n.1350+121del
XM_011524964.3:c.261+121del	XP_011523266.1:n.261+121del
XM_011524965.3:c.1440+121del	XP_011523267.1:n.1440+121del
XM_017024807.1:c.1440+121del	XP_016880296.1:n.1440+121del
XM_024450821.1:c.1350+121del	XP_024306589.1:n.1350+121del
XR_001752550.2:n.1471+121del
XR_934495.2:n.1471+121del
NM_017950.4:c.1440+121del MANE Select	NP_060420.2:n.1440+121del
NM_001330508.2:c.1440+121del	NP_001317437.1:n.1440+121del
NM_001243342.2:c.1440+121del	NP_001230271.1:n.1440+121del