Canonical Allele Identifier: CA2640286691

Gene: CCDC40

Linked Data

• gnomAD v4: 17-80059122-C-CACCA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80059122_80059123insACCA , CM000679.2:g.80059122_80059123insACCA	GRCh38
NC_000017.10:g.78032921_78032922insACCA , CM000679.1:g.78032921_78032922insACCA	GRCh37
NC_000017.9:g.75647516_75647517insACCA	NCBI36
NG_029761.1:g.27491_27492insACCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397545.9:c.1440+142_1440+143insACCA MANE Select	ENSP00000380679.4:n.1440+142_1440+143insACCA
ENST00000269318.9:c.1440+142_1440+143insACCA	ENSP00000269318.5:n.1440+142_1440+143insACCA
ENST00000374876.4:c.1317+471_1317+472insACCA	ENSP00000364010.4:n.1317+471_1317+472insACCA
ENST00000374877.7:c.1440+142_1440+143insACCA	ENSP00000364011.3:n.1440+142_1440+143insACCA
ENST00000397545.8:c.1440+142_1440+143insACCA	ENSP00000380679.4:n.1440+142_1440+143insACCA
ENST00000571028.1:c.56+142_56+143insACCA
ENST00000574799.5:n.977+142_977+143insACCA
NM_001243342.1:c.1440+142_1440+143insACCA	NP_001230271.1:n.1440+142_1440+143insACCA
NM_017950.3:c.1440+142_1440+143insACCA	NP_060420.2:n.1440+142_1440+143insACCA
XM_005257492.3:c.1440+142_1440+143insACCA	XP_005257549.1:n.1440+142_1440+143insACCA
XM_011524963.1:c.1350+142_1350+143insACCA	XP_011523265.1:n.1350+142_1350+143insACCA
XM_011524964.1:c.261+142_261+143insACCA	XP_011523266.1:n.261+142_261+143insACCA
XM_011524965.1:c.1440+142_1440+143insACCA	XP_011523267.1:n.1440+142_1440+143insACCA
XR_934495.1:n.1471+142_1471+143insACCA
NM_001330508.1:c.1440+142_1440+143insACCA	NP_001317437.1:n.1440+142_1440+143insACCA
XM_011524963.3:c.1350+142_1350+143insACCA	XP_011523265.1:n.1350+142_1350+143insACCA
XM_011524964.3:c.261+142_261+143insACCA	XP_011523266.1:n.261+142_261+143insACCA
XM_011524965.3:c.1440+142_1440+143insACCA	XP_011523267.1:n.1440+142_1440+143insACCA
XM_017024807.1:c.1440+142_1440+143insACCA	XP_016880296.1:n.1440+142_1440+143insACCA
XM_024450821.1:c.1350+142_1350+143insACCA	XP_024306589.1:n.1350+142_1350+143insACCA
XR_001752550.2:n.1471+142_1471+143insACCA
XR_934495.2:n.1471+142_1471+143insACCA
NM_017950.4:c.1440+142_1440+143insACCA MANE Select	NP_060420.2:n.1440+142_1440+143insACCA
NM_001330508.2:c.1440+142_1440+143insACCA	NP_001317437.1:n.1440+142_1440+143insACCA
NM_001243342.2:c.1440+142_1440+143insACCA	NP_001230271.1:n.1440+142_1440+143insACCA