Canonical Allele Identifier: CA677043147

Gene: DDB2

Linked Data

• dbSNP Id: rs1348426103
• gnomAD v3: 11-47235403-A-AC
• gnomAD v4: 11-47235403-A-AC
• MyVariant Identifiers: chr11:g.47256954_47256955insC (hg19) ; chr11:g.47235403_47235404insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47235406dup , CM000673.2:g.47235406dup	GRCh38
NC_000011.9:g.47256957dup , CM000673.1:g.47256957dup	GRCh37
NC_000011.8:g.47213533dup	NCBI36
NG_009365.1:g.25465dup , LRG_467:g.25465dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256996.9:c.1017dup MANE Select	ENSP00000256996.4:p.Ile340HisfsTer21
ENST00000256996.8:c.1017dup	ENSP00000256996.3:p.Ile340HisfsTer21
ENST00000378600.7:c.457-2431dup	ENSP00000367863.3:n.457-2431dup
ENST00000378601.7:c.*104dup	ENSP00000367864.3:n.*104dup
ENST00000378603.7:c.825dup	ENSP00000367866.3:p.Ile276HisfsTer21
ENST00000612309.4:n.2466dup
ENST00000614394.1:n.407dup
ENST00000616278.4:c.693dup	ENSP00000478411.1:n.693dup
ENST00000617022.4:n.1554-2431dup
ENST00000617847.4:c.946dup
ENST00000620515.1:n.183dup
NM_000107.2:c.1017dup , LRG_467t1:c.1017dup	NP_000098.1:p.Ile340HisfsTer21
NM_001300734.1:c.457-2431dup	NP_001287663.1:n.457-2431dup
XR_242780.3:n.1007dup
XR_242780.4:n.1007dup
NM_000107.3:c.1017dup MANE Select	NP_000098.1:p.Ile340HisfsTer21
NM_001300734.2:c.457-2431dup	NP_001287663.1:n.457-2431dup
NM_001399874.1:c.1017dup	NP_001386803.1:p.Ile340HisfsTer21
NM_001399875.1:c.1017dup	NP_001386804.1:p.Ile340HisfsTer21
NM_001399876.1:c.457-2431dup	NP_001386805.1:n.457-2431dup
NM_001399878.1:c.825dup	NP_001386807.1:p.Ile276HisfsTer21
NR_174610.1:n.1268dup
NR_174611.1:n.1246dup