LDH info

Canonical Allele Identifier: CA168455
Gene: RAD50 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 128015

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132609343_132609346del , CM000667.2:g.132609343_132609346del GRCh38
NC_000005.9:g.131945035_131945038del , CM000667.1:g.131945035_131945038del GRCh37
NC_000005.8:g.131972934_131972937del NCBI36
NG_021151.1:g.57420_57423del
NG_021151.2:g.57367_57370del

Transcript Alleles

HGVS Amino-acid change
NM_005732.3:c.2983_2986del VV NP_005723.2:p.Glu995ArgfsTer2
NM_005732.4:c.2983_2986del VV MANE Preferred NP_005723.2:p.Glu995ArgfsTer2
ENST00000378823.7:c.2983_2986del ENSP00000368100.4:p.Glu995ArgfsTer2
ENST00000533482.5:c.*2609_*2612del ENSP00000431225.1:p.=