Canonical Allele Identifier: CA2613379032

Gene: DDB2

Linked Data

• gnomAD v4: 11-47235412-G-GGCAGCCTGGCATCCTCGCTACAACCTCATTGTT

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47235413_47235414insCAGCCTGGCATCCTCGCTACAACCTCATTGTTG , CM000673.2:g.47235413_47235414insCAGCCTGGCATCCTCGCTACAACCTCATTGTTG	GRCh38
NC_000011.9:g.47256964_47256965insCAGCCTGGCATCCTCGCTACAACCTCATTGTTG , CM000673.1:g.47256964_47256965insCAGCCTGGCATCCTCGCTACAACCTCATTGTTG	GRCh37
NC_000011.8:g.47213540_47213541insCAGCCTGGCATCCTCGCTACAACCTCATTGTTG	NCBI36
NG_009365.1:g.25472_25473insCAGCCTGGCATCCTCGCTACAACCTCATTGTTG , LRG_467:g.25472_25473insCAGCCTGGCATCCTCGCTACAACCTCATTGTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256996.9:c.1023+1_1023+2insCAGCCTGGCATCCTCGCTACAACCTCATTGTTG MANE Select	ENSP00000256996.4:n.1023+1_1023+2insCAGCCTGGCATCCTCGCTACAACCT...
ENST00000256996.8:c.1023+1_1023+2insCAGCCTGGCATCCTCGCTACAACCTCATTGTTG	ENSP00000256996.3:n.1023+1_1023+2insCAGCCTGGCATCCTCGCTACAACCT...
ENST00000378600.7:c.457-2424_457-2423insCAGCCTGGCATCCTCGCTACAACCTCATTGTTG	ENSP00000367863.3:n.457-2424_457-2423insCAGCCTGGCATCCTCGCTACA...
ENST00000378601.7:c.*110+1_*110+2insCAGCCTGGCATCCTCGCTACAACCTCATTGTTG	ENSP00000367864.3:n.*110+1_*110+2insCAGCCTGGCATCCTCGCTACAACCT...
ENST00000378603.7:c.831+1_831+2insCAGCCTGGCATCCTCGCTACAACCTCATTGTTG	ENSP00000367866.3:n.831+1_831+2insCAGCCTGGCATCCTCGCTACAACCTCA...
ENST00000612309.4:n.2472+1_2472+2insCAGCCTGGCATCCTCGCTACAACCTCATTGTTG
ENST00000614394.1:n.414_415insCAGCCTGGCATCCTCGCTACAACCTCATTGTTG
ENST00000616278.4:c.699+1_699+2insCAGCCTGGCATCCTCGCTACAACCTCATTGTTG	ENSP00000478411.1:n.699+1_699+2insCAGCCTGGCATCCTCGCTACAACCTCA...
ENST00000617022.4:n.1554-2424_1554-2423insCAGCCTGGCATCCTCGCTACAACCTCATTGTTG
ENST00000617847.4:c.952+1_952+2insCAGCCTGGCATCCTCGCTACAACCTCATTGTTG
ENST00000620515.1:n.189+1_189+2insCAGCCTGGCATCCTCGCTACAACCTCATTGTTG
NM_000107.2:c.1023+1_1023+2insCAGCCTGGCATCCTCGCTACAACCTCATTGTTG , LRG_467t1:c.1023+1_1023+2insCAGCCTGGCATCCTCGCTACAACCTCATTGTTG	NP_000098.1:n.1023+1_1023+2insCAGCCTGGCATCCTCGCTACAACCTCATTGT...
NM_001300734.1:c.457-2424_457-2423insCAGCCTGGCATCCTCGCTACAACCTCATTGTTG	NP_001287663.1:n.457-2424_457-2423insCAGCCTGGCATCCTCGCTACAACC...
XR_242780.3:n.1013+1_1013+2insCAGCCTGGCATCCTCGCTACAACCTCATTGTTG
XR_242780.4:n.1013+1_1013+2insCAGCCTGGCATCCTCGCTACAACCTCATTGTTG
NM_000107.3:c.1023+1_1023+2insCAGCCTGGCATCCTCGCTACAACCTCATTGTTG MANE Select	NP_000098.1:n.1023+1_1023+2insCAGCCTGGCATCCTCGCTACAACCTCATTGT...
NM_001300734.2:c.457-2424_457-2423insCAGCCTGGCATCCTCGCTACAACCTCATTGTTG	NP_001287663.1:n.457-2424_457-2423insCAGCCTGGCATCCTCGCTACAACC...
NM_001399874.1:c.1023+1_1023+2insCAGCCTGGCATCCTCGCTACAACCTCATTGTTG	NP_001386803.1:n.1023+1_1023+2insCAGCCTGGCATCCTCGCTACAACCTCAT...
NM_001399875.1:c.1023+1_1023+2insCAGCCTGGCATCCTCGCTACAACCTCATTGTTG	NP_001386804.1:n.1023+1_1023+2insCAGCCTGGCATCCTCGCTACAACCTCAT...
NM_001399876.1:c.457-2424_457-2423insCAGCCTGGCATCCTCGCTACAACCTCATTGTTG	NP_001386805.1:n.457-2424_457-2423insCAGCCTGGCATCCTCGCTACAACC...
NM_001399878.1:c.831+1_831+2insCAGCCTGGCATCCTCGCTACAACCTCATTGTTG	NP_001386807.1:n.831+1_831+2insCAGCCTGGCATCCTCGCTACAACCTCATTG...
NR_174610.1:n.1274+1_1274+2insCAGCCTGGCATCCTCGCTACAACCTCATTGTTG
NR_174611.1:n.1252+1_1252+2insCAGCCTGGCATCCTCGCTACAACCTCATTGTTG