LDH info

Canonical Allele Identifier: CA258443
Gene: COL4A5 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 587268
ClinVar RCV Id: RCV000021268
dbSNP Id: rs104886104

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108591146del , CM000685.2:g.108591146del GRCh38
NC_000023.10:g.107834376del , CM000685.1:g.107834376del GRCh37
NC_000023.9:g.107721032del NCBI36
NG_011977.1:g.156223del
NG_011977.2:g.156223del

Transcript Alleles

HGVS Amino-acid change
NM_000495.4:c.1254del VV NP_000486.1:p.Pro419LeufsTer?
NM_033380.2:c.1254del VV NP_203699.1:p.Pro419LeufsTer?
XM_005262070.2:c.1254del XP_005262127.1:p.Pro419LeufsTer?
XM_005262072.3:c.1254del XP_005262129.1:p.Pro419LeufsTer?
XM_006724616.2:c.1254del XP_006724679.1:p.Pro419LeufsTer?
XM_011530849.1:c.930del XP_011529151.1:p.Pro311LeufsTer?
XM_011530850.1:c.1254del XP_011529152.1:p.Pro419LeufsTer?
XM_011530849.2:c.1269del XP_011529151.2:p.Pro424LeufsTer?
XM_017029259.2:c.1269del XP_016884748.1:p.Pro424LeufsTer?
XM_017029260.1:c.1269del XP_016884749.1:p.Pro424LeufsTer?
XM_017029261.1:c.1269del XP_016884750.1:p.Pro424LeufsTer?
XM_017029262.2:c.1269del XP_016884751.1:p.Pro424LeufsTer?
XM_017029263.2:c.-456del XP_016884752.1:p.=
ENST00000328300.10:c.1254del ENSP00000331902.6:p.Pro419LeufsTer?
ENST00000361603.6:c.1254del ENSP00000354505.2:p.Pro419LeufsTer?
ENST00000483338.1:n.710del