Canonical Allele Identifier: CA2640289598

Gene: CCDC40

Linked Data

• gnomAD v4: 17-80086837-TCTCGGAGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80086838_80086845del , CM000679.2:g.80086838_80086845del	GRCh38
NC_000017.10:g.78060637_78060644del , CM000679.1:g.78060637_78060644del	GRCh37
NC_000017.9:g.75675232_75675239del	NCBI36
NG_029761.1:g.55207_55214del

Transcript Alleles

HGVS	Amino-acid change
ENST00000397545.9:c.2449+622_2449+629del MANE Select	ENSP00000380679.4:n.2449+622_2449+629del
ENST00000374877.7:c.2449+622_2449+629del	ENSP00000364011.3:n.2449+622_2449+629del
ENST00000397545.8:c.2449+622_2449+629del	ENSP00000380679.4:n.2449+622_2449+629del
ENST00000572253.5:n.1698_1705del
ENST00000574799.5:n.1986+622_1986+629del
NM_001243342.1:c.2449+622_2449+629del	NP_001230271.1:n.2449+622_2449+629del
NM_017950.3:c.2449+622_2449+629del	NP_060420.2:n.2449+622_2449+629del
XM_011524963.1:c.2359+622_2359+629del	XP_011523265.1:n.2359+622_2359+629del
XM_011524964.1:c.1270+622_1270+629del	XP_011523266.1:n.1270+622_1270+629del
XR_934495.1:n.2480+622_2480+629del
XM_011524963.3:c.2359+622_2359+629del	XP_011523265.1:n.2359+622_2359+629del
XM_011524964.3:c.1270+622_1270+629del	XP_011523266.1:n.1270+622_1270+629del
XM_024450821.1:c.2359+622_2359+629del	XP_024306589.1:n.2359+622_2359+629del
XR_001752550.2:n.2480+622_2480+629del
XR_934495.2:n.2480+622_2480+629del
NM_017950.4:c.2449+622_2449+629del MANE Select	NP_060420.2:n.2449+622_2449+629del
NM_001243342.2:c.2449+622_2449+629del	NP_001230271.1:n.2449+622_2449+629del