Canonical Allele Identifier: CA2613379447

Gene: DDB2

Linked Data

• gnomAD v4: 11-47235567-TCTTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47235571_47235574del , CM000673.2:g.47235571_47235574del	GRCh38
NC_000011.9:g.47257122_47257125del , CM000673.1:g.47257122_47257125del	GRCh37
NC_000011.8:g.47213698_47213701del	NCBI36
NG_009365.1:g.25630_25633del , LRG_467:g.25630_25633del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256996.9:c.1023+159_1023+162del MANE Select	ENSP00000256996.4:n.1023+159_1023+162del
ENST00000256996.8:c.1023+159_1023+162del	ENSP00000256996.3:n.1023+159_1023+162del
ENST00000378600.7:c.457-2266_457-2263del	ENSP00000367863.3:n.457-2266_457-2263del
ENST00000378601.7:c.*110+159_*110+162del	ENSP00000367864.3:n.*110+159_*110+162del
ENST00000378603.7:c.831+159_831+162del	ENSP00000367866.3:n.831+159_831+162del
ENST00000612309.4:n.2472+159_2472+162del
ENST00000614394.1:n.572_575del
ENST00000616278.4:c.699+159_699+162del	ENSP00000478411.1:n.699+159_699+162del
ENST00000617022.4:n.1554-2266_1554-2263del
ENST00000617847.4:c.952+159_952+162del
ENST00000620515.1:n.189+159_189+162del
NM_000107.2:c.1023+159_1023+162del , LRG_467t1:c.1023+159_1023+162del	NP_000098.1:n.1023+159_1023+162del
NM_001300734.1:c.457-2266_457-2263del	NP_001287663.1:n.457-2266_457-2263del
XR_242780.3:n.1013+159_1013+162del
XR_242780.4:n.1013+159_1013+162del
NM_000107.3:c.1023+159_1023+162del MANE Select	NP_000098.1:n.1023+159_1023+162del
NM_001300734.2:c.457-2266_457-2263del	NP_001287663.1:n.457-2266_457-2263del
NM_001399874.1:c.1023+159_1023+162del	NP_001386803.1:n.1023+159_1023+162del
NM_001399875.1:c.1023+159_1023+162del	NP_001386804.1:n.1023+159_1023+162del
NM_001399876.1:c.457-2266_457-2263del	NP_001386805.1:n.457-2266_457-2263del
NM_001399878.1:c.831+159_831+162del	NP_001386807.1:n.831+159_831+162del
NR_174610.1:n.1274+159_1274+162del
NR_174611.1:n.1252+159_1252+162del