Canonical Allele Identifier: CA2613376452

Gene: DDB2

Linked Data

• gnomAD v4: 11-47234670-GAGGTGCGTTCTCCGAGGTCCTGCCTTTCCCTCCCTCACCCCCACCTCGGTTCTGTGTCCCCACCTGAACCGAGCTCTTCTCTGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47234673_47234756del , CM000673.2:g.47234673_47234756del	GRCh38
NC_000011.9:g.47256224_47256307del , CM000673.1:g.47256224_47256307del	GRCh37
NC_000011.8:g.47212800_47212883del	NCBI36
NG_009365.1:g.24732_24815del , LRG_467:g.24732_24815del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256996.9:c.702+1_703-1del
ENST00000256996.8:c.702+1_703-1del
ENST00000378600.7:c.457-3164_457-3081del	ENSP00000367863.3:n.457-3164_457-3081del
ENST00000378601.7:c.702+1_702+84del
ENST00000378603.7:c.510+1_511-1del
ENST00000612309.4:n.1816+1_1817-1del
ENST00000614394.1:n.92+1_93-1del
ENST00000616278.4:c.556+1_556+84del
ENST00000617022.4:n.1554-3164_1554-3081del
ENST00000617847.4:c.631+1_632-1del
ENST00000620515.1:n.46+1_46+84del
NM_000107.2:c.702+1_703-1del , LRG_467t1:c.702+1_703-1del
NM_001300734.1:c.457-3164_457-3081del	NP_001287663.1:n.457-3164_457-3081del
XR_242780.3:n.870+1_870+84del
XR_242780.4:n.870+1_870+84del
NM_000107.3:c.702+1_703-1del
NM_001300734.2:c.457-3164_457-3081del	NP_001287663.1:n.457-3164_457-3081del
NM_001399874.1:c.702+1_703-1del
NM_001399875.1:c.702+1_703-1del
NM_001399876.1:c.457-3164_457-3081del	NP_001386805.1:n.457-3164_457-3081del
NM_001399878.1:c.510+1_511-1del
NR_174610.1:n.1131+1_1131+84del
NR_174611.1:n.989+1_990-1del