LDH info

Canonical Allele Identifier: CA259001
Gene: COL4A5 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 24712
ClinVar RCV Id: RCV000021591

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108681867del , CM000685.2:g.108681867del GRCh38
NC_000023.10:g.107925097del , CM000685.1:g.107925097del GRCh37
NC_000023.9:g.107811753del NCBI36
NG_011977.1:g.246944del
NG_011977.2:g.246944del

Transcript Alleles

HGVS Amino-acid change
NM_000495.4:c.4177del VV NP_000486.1:p.Gln1393LysfsTer?
NM_033380.2:c.4195del VV NP_203699.1:p.Gln1399LysfsTer?
XM_005262070.2:c.4186del XP_005262127.1:p.Gln1396LysfsTer?
XM_006724616.2:c.4195del XP_006724679.1:p.Gln1399LysfsTer?
XM_011530849.1:c.3871del XP_011529151.1:p.Gln1291LysfsTer?
XM_011530851.1:c.1768del XP_011529153.1:p.Gln590LysfsTer?
XM_011530849.2:c.4210del XP_011529151.2:p.Gln1404LysfsTer?
XM_017029259.2:c.4201del XP_016884748.1:p.Gln1401LysfsTer?
XM_017029260.1:c.4192del XP_016884749.1:p.Gln1398LysfsTer?
XM_017029263.2:c.2530del XP_016884752.1:p.Gln844LysfsTer?
NM_000495.5:c.4177del VV NP_000486.1:p.Gln1393LysfsTer?
NM_033380.3:c.4195del VV NP_203699.1:p.Gln1399LysfsTer?
ENST00000328300.10:c.4195del ENSP00000331902.6:p.Gln1399LysfsTer?
ENST00000361603.6:c.4177del ENSP00000354505.2:p.Gln1393LysfsTer?
ENST00000489230.1:n.598del