Canonical Allele Identifier: CA2574813952

Gene: DDB2

Linked Data

• gnomAD v4: 11-47234930-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47234931del , CM000673.2:g.47234931del	GRCh38
NC_000011.9:g.47256482del , CM000673.1:g.47256482del	GRCh37
NC_000011.8:g.47213058del	NCBI36
NG_009365.1:g.24990del , LRG_467:g.24990del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256996.9:c.877del MANE Select	ENSP00000256996.4:p.Ala293GlnfsTer12
ENST00000256996.8:c.877del	ENSP00000256996.3:p.Ala293GlnfsTer12
ENST00000378600.7:c.457-2906del	ENSP00000367863.3:n.457-2906del
ENST00000378601.7:c.702+259del	ENSP00000367864.3:n.702+259del
ENST00000378603.7:c.685del	ENSP00000367866.3:p.Ala229GlnfsTer12
ENST00000612309.4:n.1991del
ENST00000614394.1:n.267del
ENST00000616278.4:c.556+259del	ENSP00000478411.1:n.556+259del
ENST00000617022.4:n.1554-2906del
ENST00000617847.4:c.806del
ENST00000620515.1:n.46+259del
NM_000107.2:c.877del , LRG_467t1:c.877del	NP_000098.1:p.Ala293GlnfsTer12
NM_001300734.1:c.457-2906del	NP_001287663.1:n.457-2906del
XR_242780.3:n.870+259del
XR_242780.4:n.870+259del
NM_000107.3:c.877del MANE Select	NP_000098.1:p.Ala293GlnfsTer12
NM_001300734.2:c.457-2906del	NP_001287663.1:n.457-2906del
NM_001399874.1:c.877del	NP_001386803.1:p.Ala293GlnfsTer12
NM_001399875.1:c.877del	NP_001386804.1:p.Ala293GlnfsTer12
NM_001399876.1:c.457-2906del	NP_001386805.1:n.457-2906del
NM_001399878.1:c.685del	NP_001386807.1:p.Ala229GlnfsTer12
NR_174610.1:n.1131+259del
NR_174611.1:n.1109+55del