Canonical Allele Identifier: CA2277788174

Gene: CCDC40

Linked Data

• dbSNP Id: rs2037828756
• gnomAD v4: 17-80059091-G-GCAGC

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80059096_80059099dup , CM000679.2:g.80059096_80059099dup	GRCh38
NC_000017.10:g.78032895_78032898dup , CM000679.1:g.78032895_78032898dup	GRCh37
NC_000017.9:g.75647490_75647493dup	NCBI36
NG_029761.1:g.27465_27468dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397545.9:c.1440+116_1440+119dup MANE Select	ENSP00000380679.4:n.1440+116_1440+119dup
ENST00000269318.9:c.1440+116_1440+119dup	ENSP00000269318.5:n.1440+116_1440+119dup
ENST00000374876.4:c.1317+445_1317+448dup	ENSP00000364010.4:n.1317+445_1317+448dup
ENST00000374877.7:c.1440+116_1440+119dup	ENSP00000364011.3:n.1440+116_1440+119dup
ENST00000397545.8:c.1440+116_1440+119dup	ENSP00000380679.4:n.1440+116_1440+119dup
ENST00000571028.1:c.56+116_56+119dup
ENST00000574799.5:n.977+116_977+119dup
NM_001243342.1:c.1440+116_1440+119dup	NP_001230271.1:n.1440+116_1440+119dup
NM_017950.3:c.1440+116_1440+119dup	NP_060420.2:n.1440+116_1440+119dup
XM_005257492.3:c.1440+116_1440+119dup	XP_005257549.1:n.1440+116_1440+119dup
XM_011524963.1:c.1350+116_1350+119dup	XP_011523265.1:n.1350+116_1350+119dup
XM_011524964.1:c.261+116_261+119dup	XP_011523266.1:n.261+116_261+119dup
XM_011524965.1:c.1440+116_1440+119dup	XP_011523267.1:n.1440+116_1440+119dup
XR_934495.1:n.1471+116_1471+119dup
NM_001330508.1:c.1440+116_1440+119dup	NP_001317437.1:n.1440+116_1440+119dup
XM_011524963.3:c.1350+116_1350+119dup	XP_011523265.1:n.1350+116_1350+119dup
XM_011524964.3:c.261+116_261+119dup	XP_011523266.1:n.261+116_261+119dup
XM_011524965.3:c.1440+116_1440+119dup	XP_011523267.1:n.1440+116_1440+119dup
XM_017024807.1:c.1440+116_1440+119dup	XP_016880296.1:n.1440+116_1440+119dup
XM_024450821.1:c.1350+116_1350+119dup	XP_024306589.1:n.1350+116_1350+119dup
XR_001752550.2:n.1471+116_1471+119dup
XR_934495.2:n.1471+116_1471+119dup
NM_017950.4:c.1440+116_1440+119dup MANE Select	NP_060420.2:n.1440+116_1440+119dup
NM_001330508.2:c.1440+116_1440+119dup	NP_001317437.1:n.1440+116_1440+119dup
NM_001243342.2:c.1440+116_1440+119dup	NP_001230271.1:n.1440+116_1440+119dup