Canonical Allele Identifier: CA221687122

Gene: DDB2

Linked Data

• dbSNP Id: rs35644155
• MyVariant Identifiers: chr11:g.47256356_47256357insC (hg19) ; chr11:g.47234805_47234806insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47234805_47234806insC , CM000673.2:g.47234805_47234806insC	GRCh38
NC_000011.9:g.47256356_47256357insC , CM000673.1:g.47256356_47256357insC	GRCh37
NC_000011.8:g.47212932_47212933insC	NCBI36
NG_009365.1:g.24864_24865insC , LRG_467:g.24864_24865insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256996.9:c.751_752insC MANE Select	ENSP00000256996.4:p.Asn251ThrfsTer5
ENST00000256996.8:c.751_752insC	ENSP00000256996.3:p.Asn251ThrfsTer5
ENST00000378600.7:c.457-3032_457-3031insC	ENSP00000367863.3:n.457-3032_457-3031insC
ENST00000378601.7:c.702+133_702+134insC	ENSP00000367864.3:n.702+133_702+134insC
ENST00000378603.7:c.559_560insC	ENSP00000367866.3:p.Asn187ThrfsTer5
ENST00000612309.4:n.1865_1866insC
ENST00000614394.1:n.141_142insC
ENST00000616278.4:c.556+133_556+134insC	ENSP00000478411.1:n.556+133_556+134insC
ENST00000617022.4:n.1554-3032_1554-3031insC
ENST00000617847.4:c.680_681insC
ENST00000620515.1:n.46+133_46+134insC
NM_000107.2:c.751_752insC , LRG_467t1:c.751_752insC	NP_000098.1:p.Asn251ThrfsTer5
NM_001300734.1:c.457-3032_457-3031insC	NP_001287663.1:n.457-3032_457-3031insC
XR_242780.3:n.870+133_870+134insC
XR_242780.4:n.870+133_870+134insC
NM_000107.3:c.751_752insC MANE Select	NP_000098.1:p.Asn251ThrfsTer5
NM_001300734.2:c.457-3032_457-3031insC	NP_001287663.1:n.457-3032_457-3031insC
NM_001399874.1:c.751_752insC	NP_001386803.1:p.Asn251ThrfsTer5
NM_001399875.1:c.751_752insC	NP_001386804.1:p.Asn251ThrfsTer5
NM_001399876.1:c.457-3032_457-3031insC	NP_001386805.1:n.457-3032_457-3031insC
NM_001399878.1:c.559_560insC	NP_001386807.1:p.Asn187ThrfsTer5
NR_174610.1:n.1131+133_1131+134insC
NR_174611.1:n.1038_1039insC