Canonical Allele Identifier: CA2613379107

Gene: DDB2

Linked Data

• gnomAD v4: 11-47235416-A-ATCCTCGCTACAACCTCATTGTT

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47235416_47235417insTCCTCGCTACAACCTCATTGTT , CM000673.2:g.47235416_47235417insTCCTCGCTACAACCTCATTGTT	GRCh38
NC_000011.9:g.47256967_47256968insTCCTCGCTACAACCTCATTGTT , CM000673.1:g.47256967_47256968insTCCTCGCTACAACCTCATTGTT	GRCh37
NC_000011.8:g.47213543_47213544insTCCTCGCTACAACCTCATTGTT	NCBI36
NG_009365.1:g.25475_25476insTCCTCGCTACAACCTCATTGTT , LRG_467:g.25475_25476insTCCTCGCTACAACCTCATTGTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256996.9:c.1023+4_1023+5insTCCTCGCTACAACCTCATTGTT MANE Select	ENSP00000256996.4:n.1023+4_1023+5insTCCTCGCTACAACCTCATTGTT
ENST00000256996.8:c.1023+4_1023+5insTCCTCGCTACAACCTCATTGTT	ENSP00000256996.3:n.1023+4_1023+5insTCCTCGCTACAACCTCATTGTT
ENST00000378600.7:c.457-2421_457-2420insTCCTCGCTACAACCTCATTGTT	ENSP00000367863.3:n.457-2421_457-2420insTCCTCGCTACAACCTCATTGT...
ENST00000378601.7:c.*110+4_*110+5insTCCTCGCTACAACCTCATTGTT	ENSP00000367864.3:n.*110+4_*110+5insTCCTCGCTACAACCTCATTGTT
ENST00000378603.7:c.831+4_831+5insTCCTCGCTACAACCTCATTGTT	ENSP00000367866.3:n.831+4_831+5insTCCTCGCTACAACCTCATTGTT
ENST00000612309.4:n.2472+4_2472+5insTCCTCGCTACAACCTCATTGTT
ENST00000614394.1:n.417_418insTCCTCGCTACAACCTCATTGTT
ENST00000616278.4:c.699+4_699+5insTCCTCGCTACAACCTCATTGTT	ENSP00000478411.1:n.699+4_699+5insTCCTCGCTACAACCTCATTGTT
ENST00000617022.4:n.1554-2421_1554-2420insTCCTCGCTACAACCTCATTGTT
ENST00000617847.4:c.952+4_952+5insTCCTCGCTACAACCTCATTGTT
ENST00000620515.1:n.189+4_189+5insTCCTCGCTACAACCTCATTGTT
NM_000107.2:c.1023+4_1023+5insTCCTCGCTACAACCTCATTGTT , LRG_467t1:c.1023+4_1023+5insTCCTCGCTACAACCTCATTGTT	NP_000098.1:n.1023+4_1023+5insTCCTCGCTACAACCTCATTGTT
NM_001300734.1:c.457-2421_457-2420insTCCTCGCTACAACCTCATTGTT	NP_001287663.1:n.457-2421_457-2420insTCCTCGCTACAACCTCATTGTT
XR_242780.3:n.1013+4_1013+5insTCCTCGCTACAACCTCATTGTT
XR_242780.4:n.1013+4_1013+5insTCCTCGCTACAACCTCATTGTT
NM_000107.3:c.1023+4_1023+5insTCCTCGCTACAACCTCATTGTT MANE Select	NP_000098.1:n.1023+4_1023+5insTCCTCGCTACAACCTCATTGTT
NM_001300734.2:c.457-2421_457-2420insTCCTCGCTACAACCTCATTGTT	NP_001287663.1:n.457-2421_457-2420insTCCTCGCTACAACCTCATTGTT
NM_001399874.1:c.1023+4_1023+5insTCCTCGCTACAACCTCATTGTT	NP_001386803.1:n.1023+4_1023+5insTCCTCGCTACAACCTCATTGTT
NM_001399875.1:c.1023+4_1023+5insTCCTCGCTACAACCTCATTGTT	NP_001386804.1:n.1023+4_1023+5insTCCTCGCTACAACCTCATTGTT
NM_001399876.1:c.457-2421_457-2420insTCCTCGCTACAACCTCATTGTT	NP_001386805.1:n.457-2421_457-2420insTCCTCGCTACAACCTCATTGTT
NM_001399878.1:c.831+4_831+5insTCCTCGCTACAACCTCATTGTT	NP_001386807.1:n.831+4_831+5insTCCTCGCTACAACCTCATTGTT
NR_174610.1:n.1274+4_1274+5insTCCTCGCTACAACCTCATTGTT
NR_174611.1:n.1252+4_1252+5insTCCTCGCTACAACCTCATTGTT