Canonical Allele Identifier: CA915940516

Gene: CCDC40

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80097315_80097316dup , CM000679.2:g.80097315_80097316dup	GRCh38
NC_000017.10:g.78071114_78071115dup , CM000679.1:g.78071114_78071115dup	GRCh37
NC_000017.9:g.75685709_75685710dup	NCBI36
NG_009822.1:g.760_761dup , LRG_673:g.760_761dup
NG_029761.1:g.65684_65685dup

Transcript Alleles

HGVS	Amino-acid Change
NM_017950.4:c.3092_3093dup MANE Select	NP_060420.2:p.Glu1032Ter
ENST00000397545.9:c.3092_3093dup MANE Select	ENSP00000380679.4:p.Glu1032Ter
NM_017950.3:c.3092_3093dup	NP_060420.2:p.Glu1032Ter
ENST00000397545.8:c.3092_3093dup	ENSP00000380679.4:p.Glu1032Ter
ENST00000572253.5:n.3343_3344dup
ENST00000574799.5:n.2629_2630dup
XM_011524963.1:c.3002_3003dup	XP_011523265.1:p.Glu1002Ter
XM_011524963.3:c.3002_3003dup	XP_011523265.1:p.Glu1002Ter
XM_011524964.1:c.1913_1914dup	XP_011523266.1:p.Glu639Ter
XM_011524964.3:c.1913_1914dup	XP_011523266.1:p.Glu639Ter
XM_024450821.1:c.3002_3003dup	XP_024306589.1:p.Glu1002Ter
XR_934495.2:n.3210_3211dup