Canonical Allele Identifier: CA2613377145

Gene: DDB2

Linked Data

• gnomAD v4: 11-47234897-CCTCTA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47234901_47234905del , CM000673.2:g.47234901_47234905del	GRCh38
NC_000011.9:g.47256452_47256456del , CM000673.1:g.47256452_47256456del	GRCh37
NC_000011.8:g.47213028_47213032del	NCBI36
NG_009365.1:g.24960_24964del , LRG_467:g.24960_24964del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256996.9:c.847_851del MANE Select	ENSP00000256996.4:p.Tyr283AlafsTer?
ENST00000256996.8:c.847_851del	ENSP00000256996.3:p.Tyr283AlafsTer?
ENST00000378600.7:c.457-2936_457-2932del	ENSP00000367863.3:n.457-2936_457-2932del
ENST00000378601.7:c.702+229_702+233del	ENSP00000367864.3:n.702+229_702+233del
ENST00000378603.7:c.655_659del	ENSP00000367866.3:p.Tyr219AlafsTer?
ENST00000612309.4:n.1961_1965del
ENST00000614394.1:n.237_241del
ENST00000616278.4:c.556+229_556+233del	ENSP00000478411.1:n.556+229_556+233del
ENST00000617022.4:n.1554-2936_1554-2932del
ENST00000617847.4:c.776_780del
ENST00000620515.1:n.46+229_46+233del
NM_000107.2:c.847_851del , LRG_467t1:c.847_851del	NP_000098.1:p.Tyr283AlafsTer?
NM_001300734.1:c.457-2936_457-2932del	NP_001287663.1:n.457-2936_457-2932del
XR_242780.3:n.870+229_870+233del
XR_242780.4:n.870+229_870+233del
NM_000107.3:c.847_851del MANE Select	NP_000098.1:p.Tyr283AlafsTer?
NM_001300734.2:c.457-2936_457-2932del	NP_001287663.1:n.457-2936_457-2932del
NM_001399874.1:c.847_851del	NP_001386803.1:p.Tyr283AlafsTer?
NM_001399875.1:c.847_851del	NP_001386804.1:p.Tyr283AlafsTer?
NM_001399876.1:c.457-2936_457-2932del	NP_001386805.1:n.457-2936_457-2932del
NM_001399878.1:c.655_659del	NP_001386807.1:p.Tyr219AlafsTer?
NR_174610.1:n.1131+229_1131+233del
NR_174611.1:n.1109+25_1109+29del