Canonical Allele Identifier: CA986705540

Gene: CCDC40

Linked Data

• gnomAD v3: 17-80085818-CACCA-C
• gnomAD v4: 17-80085818-CACCA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80085819_80085822del , CM000679.2:g.80085819_80085822del	GRCh38
NC_000017.10:g.78059618_78059621del , CM000679.1:g.78059618_78059621del	GRCh37
NC_000017.9:g.75674213_75674216del	NCBI36
NG_029761.1:g.54188_54191del

Transcript Alleles

HGVS	Amino-acid change
ENST00000397545.9:c.2236-184_2236-181del MANE Select	ENSP00000380679.4:n.2236-184_2236-181del
ENST00000374877.7:c.2236-184_2236-181del	ENSP00000364011.3:n.2236-184_2236-181del
ENST00000397545.8:c.2236-184_2236-181del	ENSP00000380679.4:n.2236-184_2236-181del
ENST00000572253.5:n.863-184_863-181del
ENST00000574799.5:n.1773-184_1773-181del
NM_001243342.1:c.2236-184_2236-181del	NP_001230271.1:n.2236-184_2236-181del
NM_017950.3:c.2236-184_2236-181del	NP_060420.2:n.2236-184_2236-181del
XM_011524963.1:c.2146-184_2146-181del	XP_011523265.1:n.2146-184_2146-181del
XM_011524964.1:c.1057-184_1057-181del	XP_011523266.1:n.1057-184_1057-181del
XR_934495.1:n.2267-184_2267-181del
XM_011524963.3:c.2146-184_2146-181del	XP_011523265.1:n.2146-184_2146-181del
XM_011524964.3:c.1057-184_1057-181del	XP_011523266.1:n.1057-184_1057-181del
XM_024450821.1:c.2146-184_2146-181del	XP_024306589.1:n.2146-184_2146-181del
XR_001752550.2:n.2267-184_2267-181del
XR_934495.2:n.2267-184_2267-181del
NM_017950.4:c.2236-184_2236-181del MANE Select	NP_060420.2:n.2236-184_2236-181del
NM_001243342.2:c.2236-184_2236-181del	NP_001230271.1:n.2236-184_2236-181del