Canonical Allele Identifier: CA221687029

Gene: DDB2

Linked Data

• dbSNP Id: rs35431351
• gnomAD v4: 11-47234713-AC-A
• MyVariant Identifiers: chr11:g.47256265del (hg19) ; chr11:g.47234714del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47234715del , CM000673.2:g.47234715del	GRCh38
NC_000011.9:g.47256266del , CM000673.1:g.47256266del	GRCh37
NC_000011.8:g.47212842del	NCBI36
NG_009365.1:g.24774del , LRG_467:g.24774del

Transcript Alleles

HGVS	Amino-acid change
ENST00000256996.9:c.703-42del MANE Select	ENSP00000256996.4:n.703-42del
ENST00000256996.8:c.703-42del	ENSP00000256996.3:n.703-42del
ENST00000378600.7:c.457-3122del	ENSP00000367863.3:n.457-3122del
ENST00000378601.7:c.702+43del	ENSP00000367864.3:n.702+43del
ENST00000378603.7:c.511-42del	ENSP00000367866.3:n.511-42del
ENST00000612309.4:n.1817-42del
ENST00000614394.1:n.93-42del
ENST00000616278.4:c.556+43del	ENSP00000478411.1:n.556+43del
ENST00000617022.4:n.1554-3122del
ENST00000617847.4:c.632-42del
ENST00000620515.1:n.46+43del
NM_000107.2:c.703-42del , LRG_467t1:c.703-42del	NP_000098.1:n.703-42del
NM_001300734.1:c.457-3122del	NP_001287663.1:n.457-3122del
XR_242780.3:n.870+43del
XR_242780.4:n.870+43del
NM_000107.3:c.703-42del MANE Select	NP_000098.1:n.703-42del
NM_001300734.2:c.457-3122del	NP_001287663.1:n.457-3122del
NM_001399874.1:c.703-42del	NP_001386803.1:n.703-42del
NM_001399875.1:c.703-42del	NP_001386804.1:n.703-42del
NM_001399876.1:c.457-3122del	NP_001386805.1:n.457-3122del
NM_001399878.1:c.511-42del	NP_001386807.1:n.511-42del
NR_174610.1:n.1131+43del
NR_174611.1:n.990-42del