Canonical Allele Identifier: CA256856
Gene: TTR HGNC NCBI

Linked Data

ClinVar Variation Id: 13460
ClinVar RCV Id: RCV000014402
dbSNP Id: rs121918096
MyVariant Identifiers: chr18:g.29178618_29178620del (hg19) chr18:g.31598655_31598657del (hg38)
PubMed: PMID:9191784 PMID:11140845 PMID:11385707 PMID:14640030 PMID:24184229 PMID:26656838
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31598655_31598657del , CM000680.2:g.31598655_31598657del GRCh38
NC_000018.9:g.29178618_29178620del , CM000680.1:g.29178618_29178620del GRCh37
NC_000018.8:g.27432616_27432618del NCBI36
NG_009490.1:g.11889_11891del , LRG_416:g.11889_11891del

Transcript Alleles

HGVS Amino-acid change
ENST00000237014.8:c.424_426del MANE Select ENSP00000237014.4:p.Val142del
ENST00000610404.5:c.328_330del ENSP00000477599.2:p.Val110del
ENST00000649620.1:c.424_426del ENSP00000497927.1:p.Val142del
ENST00000237014.7:c.424_426del ENSP00000237014.3:p.Val142del
ENST00000610404.4:c.538_540del ENSP00000477599.1:p.Val180del
ENST00000613781.1:c.400_402del ENSP00000479174.1:p.Val134del
NM_000371.3:c.424_426del , LRG_416t1:c.424_426del NP_000362.1:p.Val142del
NM_000371.4:c.424_426del MANE Select NP_000362.1:p.Val142del
Search 100 bp 5'
Search 100 bp 3'