Canonical Allele Identifier: CA2574813985

Gene: DDB2

Linked Data

• gnomAD v4: 11-47235354-GC-G

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256996.9:c.970del MANE Select	ENSP00000256996.4:p.Leu324TrpfsTer3
ENST00000256996.8:c.970del	ENSP00000256996.3:p.Leu324TrpfsTer3
ENST00000378600.7:c.457-2478del	ENSP00000367863.3:n.457-2478del
ENST00000378601.7:c.*57del	ENSP00000367864.3:n.*57del
ENST00000378603.7:c.778del	ENSP00000367866.3:p.Leu260TrpfsTer3
ENST00000612309.4:n.2419del
ENST00000614394.1:n.360del
ENST00000616278.4:c.646del	ENSP00000478411.1:n.646del
ENST00000617022.4:n.1554-2478del
ENST00000617847.4:c.899del
ENST00000620515.1:n.136del
NM_000107.2:c.970del , LRG_467t1:c.970del	NP_000098.1:p.Leu324TrpfsTer3
NM_001300734.1:c.457-2478del	NP_001287663.1:n.457-2478del
XR_242780.3:n.960del
XR_242780.4:n.960del
NM_000107.3:c.970del MANE Select	NP_000098.1:p.Leu324TrpfsTer3
NM_001300734.2:c.457-2478del	NP_001287663.1:n.457-2478del
NM_001399874.1:c.970del	NP_001386803.1:p.Leu324TrpfsTer3
NM_001399875.1:c.970del	NP_001386804.1:p.Leu324TrpfsTer3
NM_001399876.1:c.457-2478del	NP_001386805.1:n.457-2478del
NM_001399878.1:c.778del	NP_001386807.1:p.Leu260TrpfsTer3
NR_174610.1:n.1221del
NR_174611.1:n.1199del