LDH info

Canonical Allele Identifier: CA256856
Gene: TTR HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 13460
ClinVar RCV Id: RCV000014402
dbSNP Id: rs121918096

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31598652_31598654del , CM000680.2:g.31598652_31598654del GRCh38
NC_000018.9:g.29178615_29178617del , CM000680.1:g.29178615_29178617del GRCh37
NC_000018.8:g.27432613_27432615del NCBI36
NG_009490.1:g.11886_11888del , LRG_416:g.11886_11888del

Transcript Alleles

HGVS Amino-acid change
NM_000371.3:c.421_423del , LRG_416t1:c.421_423del NP_000362.1:p.Val142del
NM_000371.4:c.421_423del VV MANE Preferred NP_000362.1:p.Val142del
ENST00000237014.7:c.421_423del ENSP00000237014.3:p.Val142del
ENST00000610404.4:c.535_537del ENSP00000477599.1:p.Val180del
ENST00000613781.1:c.397_399del ENSP00000479174.1:p.Val134del