Canonical Allele Identifier: CA919958675
Gene: TTR HGNC NCBI

Linked Data

dbSNP Id: rs1598844216
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31593001_31593004del , CM000680.2:g.31593001_31593004del GRCh38
NC_000018.9:g.29172964_29172967del , CM000680.1:g.29172964_29172967del GRCh37
NC_000018.8:g.27426962_27426965del NCBI36
NG_009490.1:g.6235_6238del , LRG_416:g.6235_6238del

Transcript Alleles

HGVS Amino-acid Change
ENST00000237014.8:c.175_178del MANE Select ENSP00000237014.4:p.Asp59ProfsTer26
ENST00000610404.5:c.79_82del ENSP00000477599.2:p.Asp27ProfsTer26
ENST00000649620.1:c.175_178del ENSP00000497927.1:p.Asp59ProfsTer26
ENST00000237014.7:c.175_178del ENSP00000237014.3:p.Asp59ProfsTer26
ENST00000432547.7:n.201_204del
ENST00000541025.2:n.201_204del
ENST00000610404.4:c.175_178del ENSP00000477599.1:p.Asp59ProfsTer26
ENST00000613781.1:c.175_178del ENSP00000479174.1:p.Asp59ProfsTer26
NM_000371.3:c.175_178del , LRG_416t1:c.175_178del NP_000362.1:p.Asp59ProfsTer26
NM_000371.4:c.175_178del MANE Select NP_000362.1:p.Asp59ProfsTer26
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