Canonical Allele Identifier: CA677043233

Gene: DDB2

Linked Data

• dbSNP Id: rs1425146916
• gnomAD v4: 11-47235559-GCT-G
• MyVariant Identifiers: chr11:g.47257111_47257112del (hg19) ; chr11:g.47235560_47235561del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47235568_47235569del , CM000673.2:g.47235568_47235569del	GRCh38
NC_000011.9:g.47257119_47257120del , CM000673.1:g.47257119_47257120del	GRCh37
NC_000011.8:g.47213695_47213696del	NCBI36
NG_009365.1:g.25627_25628del , LRG_467:g.25627_25628del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256996.9:c.1023+156_1023+157del MANE Select	ENSP00000256996.4:n.1023+156_1023+157del
ENST00000256996.8:c.1023+156_1023+157del	ENSP00000256996.3:n.1023+156_1023+157del
ENST00000378600.7:c.457-2269_457-2268del	ENSP00000367863.3:n.457-2269_457-2268del
ENST00000378601.7:c.*110+156_*110+157del	ENSP00000367864.3:n.*110+156_*110+157del
ENST00000378603.7:c.831+156_831+157del	ENSP00000367866.3:n.831+156_831+157del
ENST00000612309.4:n.2472+156_2472+157del
ENST00000614394.1:n.569_570del
ENST00000616278.4:c.699+156_699+157del	ENSP00000478411.1:n.699+156_699+157del
ENST00000617022.4:n.1554-2269_1554-2268del
ENST00000617847.4:c.952+156_952+157del
ENST00000620515.1:n.189+156_189+157del
NM_000107.2:c.1023+156_1023+157del , LRG_467t1:c.1023+156_1023+157del	NP_000098.1:n.1023+156_1023+157del
NM_001300734.1:c.457-2269_457-2268del	NP_001287663.1:n.457-2269_457-2268del
XR_242780.3:n.1013+156_1013+157del
XR_242780.4:n.1013+156_1013+157del
NM_000107.3:c.1023+156_1023+157del MANE Select	NP_000098.1:n.1023+156_1023+157del
NM_001300734.2:c.457-2269_457-2268del	NP_001287663.1:n.457-2269_457-2268del
NM_001399874.1:c.1023+156_1023+157del	NP_001386803.1:n.1023+156_1023+157del
NM_001399875.1:c.1023+156_1023+157del	NP_001386804.1:n.1023+156_1023+157del
NM_001399876.1:c.457-2269_457-2268del	NP_001386805.1:n.457-2269_457-2268del
NM_001399878.1:c.831+156_831+157del	NP_001386807.1:n.831+156_831+157del
NR_174610.1:n.1274+156_1274+157del
NR_174611.1:n.1252+156_1252+157del