Canonical Allele Identifier: CA2277801213

Gene: CCDC40

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80086715_80086716delinsAC , CM000679.2:g.80086715_80086716delinsAC	GRCh38
NC_000017.10:g.78060514_78060515delinsAC , CM000679.1:g.78060514_78060515delinsAC	GRCh37
NC_000017.9:g.75675109_75675110delinsAC	NCBI36
NG_029761.1:g.55084_55085delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397545.9:c.2449+499_2449+500delinsAC MANE Select	ENSP00000380679.4:n.2449+499_2449+500delinsAC
ENST00000374877.7:c.2449+499_2449+500delinsAC	ENSP00000364011.3:n.2449+499_2449+500delinsAC
ENST00000397545.8:c.2449+499_2449+500delinsAC	ENSP00000380679.4:n.2449+499_2449+500delinsAC
ENST00000572253.5:n.1575_1576delinsAC
ENST00000574799.5:n.1986+499_1986+500delinsAC
NM_001243342.1:c.2449+499_2449+500delinsAC	NP_001230271.1:n.2449+499_2449+500delinsAC
NM_017950.3:c.2449+499_2449+500delinsAC	NP_060420.2:n.2449+499_2449+500delinsAC
XM_011524963.1:c.2359+499_2359+500delinsAC	XP_011523265.1:n.2359+499_2359+500delinsAC
XM_011524964.1:c.1270+499_1270+500delinsAC	XP_011523266.1:n.1270+499_1270+500delinsAC
XR_934495.1:n.2480+499_2480+500delinsAC
XM_011524963.3:c.2359+499_2359+500delinsAC	XP_011523265.1:n.2359+499_2359+500delinsAC
XM_011524964.3:c.1270+499_1270+500delinsAC	XP_011523266.1:n.1270+499_1270+500delinsAC
XM_024450821.1:c.2359+499_2359+500delinsAC	XP_024306589.1:n.2359+499_2359+500delinsAC
XR_001752550.2:n.2480+499_2480+500delinsAC
XR_934495.2:n.2480+499_2480+500delinsAC
NM_017950.4:c.2449+499_2449+500delinsAC MANE Select	NP_060420.2:n.2449+499_2449+500delinsAC
NM_001243342.2:c.2449+499_2449+500delinsAC	NP_001230271.1:n.2449+499_2449+500delinsAC