Canonical Allele Identifier: CA2640286036

Gene: CCDC40

Linked Data

• gnomAD v4: 17-80058795-TGGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80058797_80058799del , CM000679.2:g.80058797_80058799del	GRCh38
NC_000017.10:g.78032596_78032598del , CM000679.1:g.78032596_78032598del	GRCh37
NC_000017.9:g.75647191_75647193del	NCBI36
NG_029761.1:g.27166_27168del

Transcript Alleles

HGVS	Amino-acid change
ENST00000397545.9:c.1318-61_1318-59del MANE Select	ENSP00000380679.4:n.1318-61_1318-59del
ENST00000269318.9:c.1318-61_1318-59del	ENSP00000269318.5:n.1318-61_1318-59del
ENST00000374876.4:c.1317+146_1317+148del	ENSP00000364010.4:n.1317+146_1317+148del
ENST00000374877.7:c.1318-61_1318-59del	ENSP00000364011.3:n.1318-61_1318-59del
ENST00000397545.8:c.1318-61_1318-59del	ENSP00000380679.4:n.1318-61_1318-59del
ENST00000574799.5:n.855-61_855-59del
NM_001243342.1:c.1318-61_1318-59del	NP_001230271.1:n.1318-61_1318-59del
NM_017950.3:c.1318-61_1318-59del	NP_060420.2:n.1318-61_1318-59del
XM_005257492.3:c.1318-61_1318-59del	XP_005257549.1:n.1318-61_1318-59del
XM_011524963.1:c.1228-61_1228-59del	XP_011523265.1:n.1228-61_1228-59del
XM_011524964.1:c.139-61_139-59del	XP_011523266.1:n.139-61_139-59del
XM_011524965.1:c.1318-61_1318-59del	XP_011523267.1:n.1318-61_1318-59del
XR_934495.1:n.1349-61_1349-59del
NM_001330508.1:c.1318-61_1318-59del	NP_001317437.1:n.1318-61_1318-59del
XM_011524963.3:c.1228-61_1228-59del	XP_011523265.1:n.1228-61_1228-59del
XM_011524964.3:c.139-61_139-59del	XP_011523266.1:n.139-61_139-59del
XM_011524965.3:c.1318-61_1318-59del	XP_011523267.1:n.1318-61_1318-59del
XM_017024807.1:c.1318-61_1318-59del	XP_016880296.1:n.1318-61_1318-59del
XM_024450821.1:c.1228-61_1228-59del	XP_024306589.1:n.1228-61_1228-59del
XR_001752550.2:n.1349-61_1349-59del
XR_934495.2:n.1349-61_1349-59del
NM_017950.4:c.1318-61_1318-59del MANE Select	NP_060420.2:n.1318-61_1318-59del
NM_001330508.2:c.1318-61_1318-59del	NP_001317437.1:n.1318-61_1318-59del
NM_001243342.2:c.1318-61_1318-59del	NP_001230271.1:n.1318-61_1318-59del