Canonical Allele Identifier: CA2613377207

Gene: DDB2

Linked Data

• gnomAD v4: 11-47234923-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47234924dup , CM000673.2:g.47234924dup	GRCh38
NC_000011.9:g.47256475dup , CM000673.1:g.47256475dup	GRCh37
NC_000011.8:g.47213051dup	NCBI36
NG_009365.1:g.24983dup , LRG_467:g.24983dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256996.9:c.870dup MANE Select	ENSP00000256996.4:p.Val291CysfsTer?
ENST00000256996.8:c.870dup	ENSP00000256996.3:p.Val291CysfsTer?
ENST00000378600.7:c.457-2913dup	ENSP00000367863.3:n.457-2913dup
ENST00000378601.7:c.702+252dup	ENSP00000367864.3:n.702+252dup
ENST00000378603.7:c.678dup	ENSP00000367866.3:p.Val227CysfsTer?
ENST00000612309.4:n.1984dup
ENST00000614394.1:n.260dup
ENST00000616278.4:c.556+252dup	ENSP00000478411.1:n.556+252dup
ENST00000617022.4:n.1554-2913dup
ENST00000617847.4:c.799dup
ENST00000620515.1:n.46+252dup
NM_000107.2:c.870dup , LRG_467t1:c.870dup	NP_000098.1:p.Val291CysfsTer?
NM_001300734.1:c.457-2913dup	NP_001287663.1:n.457-2913dup
XR_242780.3:n.870+252dup
XR_242780.4:n.870+252dup
NM_000107.3:c.870dup MANE Select	NP_000098.1:p.Val291CysfsTer?
NM_001300734.2:c.457-2913dup	NP_001287663.1:n.457-2913dup
NM_001399874.1:c.870dup	NP_001386803.1:p.Val291CysfsTer?
NM_001399875.1:c.870dup	NP_001386804.1:p.Val291CysfsTer?
NM_001399876.1:c.457-2913dup	NP_001386805.1:n.457-2913dup
NM_001399878.1:c.678dup	NP_001386807.1:p.Val227CysfsTer?
NR_174610.1:n.1131+252dup
NR_174611.1:n.1109+48dup