LDH info

Canonical Allele Identifier: CA333012
Gene: RAD51C HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 136163
ClinVar RCV Id: RCV000123379
dbSNP Id: rs587780840

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.58692740_58692741del , CM000679.2:g.58692740_58692741del GRCh38
NC_000017.10:g.56770101_56770102del , CM000679.1:g.56770101_56770102del GRCh37
NC_000017.9:g.54125100_54125101del NCBI36
NG_023199.1:g.5139_5140del , LRG_314:g.5139_5140del
NG_047169.1:g.4339_4340del

Transcript Alleles

HGVS Amino-acid change
NM_002876.3:c.97_98del VV NP_002867.1:p.Gln33AspfsTer3
NM_058216.2:c.97_98del VV NP_478123.1:p.Gln33AspfsTer3
NR_103872.1:n.168_169del
NR_103873.1:n.113+55_113+56del
XM_006722001.2:c.97_98del XP_006722064.1:p.Gln33AspfsTer3
XM_006722002.2:c.97_98del XP_006722065.1:p.Gln33AspfsTer3
XM_006722004.2:c.-207+55_-207+56del XP_006722067.1:p.=
XM_006722005.2:c.-207+108_-207+109del XP_006722068.1:p.=
XM_011525092.1:c.-507+55_-507+56del XP_011523394.1:p.=
XM_011525093.1:c.-668+55_-668+56del XP_011523395.1:p.=
XR_934513.1:n.170_171del
XR_934514.1:n.170_171del
XM_006722001.4:c.97_98del XP_006722064.1:p.Gln33AspfsTer3
XM_006722002.4:c.97_98del XP_006722065.1:p.Gln33AspfsTer3
XM_006722004.3:c.-207+55_-207+56del XP_006722067.1:p.=
XM_006722005.3:c.-207+108_-207+109del XP_006722068.1:p.=
XM_011525092.2:c.-507+55_-507+56del XP_011523394.1:p.=
XM_011525093.2:c.-668+55_-668+56del XP_011523395.1:p.=
XM_017024914.1:c.-207+55_-207+56del XP_016880403.1:p.=
XM_017024916.1:c.-507+55_-507+56del XP_016880405.1:p.=
XM_017024917.1:c.-207+108_-207+109del XP_016880406.1:p.=
XM_017024918.2:c.-426_-425del XP_016880407.1:p.=
XM_017024919.1:c.-668+55_-668+56del XP_016880408.1:p.=
XR_934513.3:n.601_602del
XR_934514.3:n.601_602del
NM_058216.3:c.97_98del VV MANE Preferred NP_478123.1:p.Gln33AspfsTer3
NR_103872.2:n.139_140del
ENST00000337432.8:c.97_98del ENSP00000336701.4:p.Gln33AspfsTer3
ENST00000421782.3:c.97_98del ENSP00000391450.2:p.Gln33AspfsTer3
ENST00000461271.5:c.-207+55_-207+56del ENSP00000464056.1:p.=
ENST00000475762.5:c.97_98del ENSP00000432421.1:p.Gln33AspfsTer3
ENST00000476741.2:n.139_140del
ENST00000482007.5:c.97_98del ENSP00000433332.1:p.Gln33AspfsTer3
ENST00000486827.1:c.97_98del ENSP00000436761.1:p.Gln33AspfsTer3
ENST00000487525.5:c.97_98del ENSP00000431637.1:p.Gln33AspfsTer3
ENST00000487921.5:n.57+108_57+109del
ENST00000583539.5:c.97_98del ENSP00000463121.1:p.Gln33AspfsTer3
ENST00000584617.5:n.78_79del