Canonical Allele Identifier: CA2529830271
Gene: CCDC40 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80099533dup , CM000679.2:g.80099533dup GRCh38
NC_000017.10:g.78073332dup , CM000679.1:g.78073332dup GRCh37
NC_000017.9:g.75687927dup NCBI36
NG_009822.1:g.2978dup , LRG_673:g.2978dup
NG_029761.1:g.67902dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000397545.9:c.3187dup MANE Select ENSP00000380679.4:p.Ser1063PhefsTer11
ENST00000397545.8:c.3187dup ENSP00000380679.4:p.Ser1063PhefsTer11
ENST00000574799.5:n.2724dup
NM_017950.3:c.3187dup NP_060420.2:p.Ser1063PhefsTer11
XM_011524963.1:c.3097dup XP_011523265.1:p.Ser1033PhefsTer11
XM_011524964.1:c.2008dup XP_011523266.1:p.Ser670PhefsTer11
XM_011524963.3:c.3097dup XP_011523265.1:p.Ser1033PhefsTer11
XM_011524964.3:c.2008dup XP_011523266.1:p.Ser670PhefsTer11
XM_024450821.1:c.3097dup XP_024306589.1:p.Ser1033PhefsTer11
XR_934495.2:n.3305dup
NM_017950.4:c.3187dup MANE Select NP_060420.2:p.Ser1063PhefsTer11