LDH info

Canonical Allele Identifier: CA258295
Gene: COL4A5 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 24303
dbSNP Id: rs104886065

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108577977del , CM000685.2:g.108577977del GRCh38
NC_000023.10:g.107821207del , CM000685.1:g.107821207del GRCh37
NC_000023.9:g.107707863del NCBI36
NG_011977.1:g.143054del
NG_011977.2:g.143054del

Transcript Alleles

HGVS Amino-acid change
NM_000495.4:c.635del VV NP_000486.1:p.Pro212GlnfsTer9
NM_033380.2:c.635del VV NP_203699.1:p.Pro212GlnfsTer9
XM_005262070.2:c.635del XP_005262127.1:p.Pro212GlnfsTer9
XM_005262072.3:c.635del XP_005262129.1:p.Pro212GlnfsTer9
XM_006724616.2:c.635del XP_006724679.1:p.Pro212GlnfsTer9
XM_011530849.1:c.311del XP_011529151.1:p.Pro104GlnfsTer9
XM_011530850.1:c.635del XP_011529152.1:p.Pro212GlnfsTer9
XM_011530849.2:c.650del XP_011529151.2:p.Pro217GlnfsTer9
XM_017029259.2:c.650del XP_016884748.1:p.Pro217GlnfsTer9
XM_017029260.1:c.650del XP_016884749.1:p.Pro217GlnfsTer9
XM_017029261.1:c.650del XP_016884750.1:p.Pro217GlnfsTer9
XM_017029262.2:c.650del XP_016884751.1:p.Pro217GlnfsTer9
ENST00000328300.10:c.635del ENSP00000331902.6:p.Pro212GlnfsTer9
ENST00000361603.6:c.635del ENSP00000354505.2:p.Pro212GlnfsTer9