Canonical Allele Identifier: CA2574813994
Gene: DDB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47235477_47235478del , CM000673.2:g.47235477_47235478del GRCh38
NC_000011.9:g.47257028_47257029del , CM000673.1:g.47257028_47257029del GRCh37
NC_000011.8:g.47213604_47213605del NCBI36
NG_009365.1:g.25536_25537del , LRG_467:g.25536_25537del

Transcript Alleles

HGVS Amino-acid Change
ENST00000256996.9:c.1023+65_1023+66del MANE Select ENSP00000256996.4:n.1023+65_1023+66del
ENST00000256996.8:c.1023+65_1023+66del ENSP00000256996.3:n.1023+65_1023+66del
ENST00000378600.7:c.457-2360_457-2359del ENSP00000367863.3:n.457-2360_457-2359del
ENST00000378601.7:c.*110+65_*110+66del ENSP00000367864.3:n.*110+65_*110+66del
ENST00000378603.7:c.831+65_831+66del ENSP00000367866.3:n.831+65_831+66del
ENST00000612309.4:n.2472+65_2472+66del
ENST00000614394.1:n.478_479del
ENST00000616278.4:c.699+65_699+66del ENSP00000478411.1:n.699+65_699+66del
ENST00000617022.4:n.1554-2360_1554-2359del
ENST00000617847.4:c.952+65_952+66del
ENST00000620515.1:n.189+65_189+66del
NM_000107.2:c.1023+65_1023+66del , LRG_467t1:c.1023+65_1023+66del NP_000098.1:n.1023+65_1023+66del
NM_001300734.1:c.457-2360_457-2359del NP_001287663.1:n.457-2360_457-2359del
XR_242780.3:n.1013+65_1013+66del
XR_242780.4:n.1013+65_1013+66del
NM_000107.3:c.1023+65_1023+66del MANE Select NP_000098.1:n.1023+65_1023+66del
NM_001300734.2:c.457-2360_457-2359del NP_001287663.1:n.457-2360_457-2359del
NM_001399874.1:c.1023+65_1023+66del NP_001386803.1:n.1023+65_1023+66del
NM_001399875.1:c.1023+65_1023+66del NP_001386804.1:n.1023+65_1023+66del
NM_001399876.1:c.457-2360_457-2359del NP_001386805.1:n.457-2360_457-2359del
NM_001399878.1:c.831+65_831+66del NP_001386807.1:n.831+65_831+66del
NR_174610.1:n.1274+65_1274+66del
NR_174611.1:n.1252+65_1252+66del