Canonical Allele Identifier: CA2580095267

Gene: CCDC40

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80058600_80058615dup , CM000679.2:g.80058600_80058615dup	GRCh38
NC_000017.10:g.78032399_78032414dup , CM000679.1:g.78032399_78032414dup	GRCh37
NC_000017.9:g.75646994_75647009dup	NCBI36
NG_029761.1:g.26969_26984dup

Transcript Alleles

HGVS	Amino-acid Change
NM_017950.4:c.1266_1281dup MANE Select	NP_060420.2:p.Glu428LysfsTer?
ENST00000397545.9:c.1266_1281dup MANE Select	ENSP00000380679.4:p.Glu428LysfsTer?
NM_001243342.1:c.1266_1281dup	NP_001230271.1:p.Glu428LysfsTer?
NM_001243342.2:c.1266_1281dup	NP_001230271.1:p.Glu428LysfsTer?
NM_001330508.1:c.1266_1281dup	NP_001317437.1:p.Glu428LysfsTer?
NM_001330508.2:c.1266_1281dup	NP_001317437.1:p.Glu428LysfsTer?
NM_017950.3:c.1266_1281dup	NP_060420.2:p.Glu428LysfsTer?
ENST00000269318.9:c.1266_1281dup	ENSP00000269318.5:p.Glu428LysfsTer?
ENST00000374876.4:c.1266_1281dup	ENSP00000364010.4:p.Glu428LysfsTer29
ENST00000374877.7:c.1266_1281dup	ENSP00000364011.3:p.Glu428LysfsTer?
ENST00000397545.8:c.1266_1281dup	ENSP00000380679.4:p.Glu428LysfsTer?
ENST00000574799.5:n.803_818dup
XM_005257492.3:c.1266_1281dup	XP_005257549.1:p.Glu428LysfsTer?
XM_011524963.1:c.1176_1191dup	XP_011523265.1:p.Glu398LysfsTer?
XM_011524963.3:c.1176_1191dup	XP_011523265.1:p.Glu398LysfsTer?
XM_011524964.1:c.87_102dup	XP_011523266.1:p.Glu35LysfsTer?
XM_011524964.3:c.87_102dup	XP_011523266.1:p.Glu35LysfsTer?
XM_011524965.1:c.1266_1281dup	XP_011523267.1:p.Glu428LysfsTer?
XM_011524965.3:c.1266_1281dup	XP_011523267.1:p.Glu428LysfsTer?
XM_017024807.1:c.1266_1281dup	XP_016880296.1:p.Glu428LysfsTer?
XM_024450821.1:c.1176_1191dup	XP_024306589.1:p.Glu398LysfsTer?
XR_001752550.2:n.1297_1312dup
XR_934495.1:n.1297_1312dup
XR_934495.2:n.1297_1312dup