Canonical Allele Identifier: CA599064455

Gene: DDB2

Linked Data

• dbSNP Id: rs1349976601
• gnomAD v2: 11-47256276-T-TGTCCCCACCTGAACCGAGCTCTTCTCTGC
• gnomAD v4: 11-47234725-T-TGTCCCCACCTGAACCGAGCTCTTCTCTGC
• MyVariant Identifiers: chr11:g.47256276_47256277insGTCCCCACCTGAACCGAGCTCTTCTCTGC (hg19) ; chr11:g.47234725_47234726insGTCCCCACCTGAACCGAGCTCTTCTCTGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47234726_47234754dup , CM000673.2:g.47234726_47234754dup	GRCh38
NC_000011.9:g.47256277_47256305dup , CM000673.1:g.47256277_47256305dup	GRCh37
NC_000011.8:g.47212853_47212881dup	NCBI36
NG_009365.1:g.24785_24813dup , LRG_467:g.24785_24813dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256996.9:c.703-31_703-3dup MANE Select	ENSP00000256996.4:n.703-31_703-3dup
ENST00000256996.8:c.703-31_703-3dup	ENSP00000256996.3:n.703-31_703-3dup
ENST00000378600.7:c.457-3111_457-3083dup	ENSP00000367863.3:n.457-3111_457-3083dup
ENST00000378601.7:c.702+54_702+82dup	ENSP00000367864.3:n.702+54_702+82dup
ENST00000378603.7:c.511-31_511-3dup	ENSP00000367866.3:n.511-31_511-3dup
ENST00000612309.4:n.1817-31_1817-3dup
ENST00000614394.1:n.93-31_93-3dup
ENST00000616278.4:c.556+54_556+82dup	ENSP00000478411.1:n.556+54_556+82dup
ENST00000617022.4:n.1554-3111_1554-3083dup
ENST00000617847.4:c.632-31_632-3dup
ENST00000620515.1:n.46+54_46+82dup
NM_000107.2:c.703-31_703-3dup , LRG_467t1:c.703-31_703-3dup	NP_000098.1:n.703-31_703-3dup
NM_001300734.1:c.457-3111_457-3083dup	NP_001287663.1:n.457-3111_457-3083dup
XR_242780.3:n.870+54_870+82dup
XR_242780.4:n.870+54_870+82dup
NM_000107.3:c.703-31_703-3dup MANE Select	NP_000098.1:n.703-31_703-3dup
NM_001300734.2:c.457-3111_457-3083dup	NP_001287663.1:n.457-3111_457-3083dup
NM_001399874.1:c.703-31_703-3dup	NP_001386803.1:n.703-31_703-3dup
NM_001399875.1:c.703-31_703-3dup	NP_001386804.1:n.703-31_703-3dup
NM_001399876.1:c.457-3111_457-3083dup	NP_001386805.1:n.457-3111_457-3083dup
NM_001399878.1:c.511-31_511-3dup	NP_001386807.1:n.511-31_511-3dup
NR_174610.1:n.1131+54_1131+82dup
NR_174611.1:n.990-31_990-3dup