Canonical Allele Identifier: CA1969296577

Gene: DDB2

Linked Data

• dbSNP Id: rs1953701277
• gnomAD v4: 11-47234846-TCAAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47234849_47234852del , CM000673.2:g.47234849_47234852del	GRCh38
NC_000011.9:g.47256400_47256403del , CM000673.1:g.47256400_47256403del	GRCh37
NC_000011.8:g.47212976_47212979del	NCBI36
NG_009365.1:g.24908_24911del , LRG_467:g.24908_24911del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256996.9:c.795_798del MANE Select	ENSP00000256996.4:p.Thr266Ter
ENST00000256996.8:c.795_798del	ENSP00000256996.3:p.Thr266Ter
ENST00000378600.7:c.457-2988_457-2985del	ENSP00000367863.3:n.457-2988_457-2985del
ENST00000378601.7:c.702+177_702+180del	ENSP00000367864.3:n.702+177_702+180del
ENST00000378603.7:c.603_606del	ENSP00000367866.3:p.Thr202Ter
ENST00000612309.4:n.1909_1912del
ENST00000614394.1:n.185_188del
ENST00000616278.4:c.556+177_556+180del	ENSP00000478411.1:n.556+177_556+180del
ENST00000617022.4:n.1554-2988_1554-2985del
ENST00000617847.4:c.724_727del
ENST00000620515.1:n.46+177_46+180del
NM_000107.2:c.795_798del , LRG_467t1:c.795_798del	NP_000098.1:p.Thr266Ter
NM_001300734.1:c.457-2988_457-2985del	NP_001287663.1:n.457-2988_457-2985del
XR_242780.3:n.870+177_870+180del
XR_242780.4:n.870+177_870+180del
NM_000107.3:c.795_798del MANE Select	NP_000098.1:p.Thr266Ter
NM_001300734.2:c.457-2988_457-2985del	NP_001287663.1:n.457-2988_457-2985del
NM_001399874.1:c.795_798del	NP_001386803.1:p.Thr266Ter
NM_001399875.1:c.795_798del	NP_001386804.1:p.Thr266Ter
NM_001399876.1:c.457-2988_457-2985del	NP_001386805.1:n.457-2988_457-2985del
NM_001399878.1:c.603_606del	NP_001386807.1:p.Thr202Ter
NR_174610.1:n.1131+177_1131+180del
NR_174611.1:n.1082_1085del