Canonical Allele Identifier: CA2791322876

Gene: DDB2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47235359dup , CM000673.2:g.47235359dup	GRCh38
NC_000011.9:g.47256910dup , CM000673.1:g.47256910dup	GRCh37
NC_000011.8:g.47213486dup	NCBI36
NG_009365.1:g.25418dup , LRG_467:g.25418dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256996.9:c.970dup MANE Select	ENSP00000256996.4:p.Leu324ProfsTer?
ENST00000256996.8:c.970dup	ENSP00000256996.3:p.Leu324ProfsTer?
ENST00000378600.7:c.457-2478dup	ENSP00000367863.3:n.457-2478dup
ENST00000378601.7:c.*57dup	ENSP00000367864.3:n.*57dup
ENST00000378603.7:c.778dup	ENSP00000367866.3:p.Leu260ProfsTer?
ENST00000612309.4:n.2419dup
ENST00000614394.1:n.360dup
ENST00000616278.4:c.646dup	ENSP00000478411.1:n.646dup
ENST00000617022.4:n.1554-2478dup
ENST00000617847.4:c.899dup
ENST00000620515.1:n.136dup
NM_000107.2:c.970dup , LRG_467t1:c.970dup	NP_000098.1:p.Leu324ProfsTer?
NM_001300734.1:c.457-2478dup	NP_001287663.1:n.457-2478dup
XR_242780.3:n.960dup
XR_242780.4:n.960dup
NM_000107.3:c.970dup MANE Select	NP_000098.1:p.Leu324ProfsTer?
NM_001300734.2:c.457-2478dup	NP_001287663.1:n.457-2478dup
NM_001399874.1:c.970dup	NP_001386803.1:p.Leu324ProfsTer?
NM_001399875.1:c.970dup	NP_001386804.1:p.Leu324ProfsTer?
NM_001399876.1:c.457-2478dup	NP_001386805.1:n.457-2478dup
NM_001399878.1:c.778dup	NP_001386807.1:p.Leu260ProfsTer?
NR_174610.1:n.1221dup
NR_174611.1:n.1199dup