Canonical Allele Identifier: CA658799023

Gene: TTR

Linked Data

• ClinVar Variation Id: 538166
• ClinVar RCV Id: RCV000647357
• dbSNP Id: rs1555631238
• MyVariant Identifiers: chr18:g.29172963_29172965del (hg19) ; chr18:g.31593000_31593002del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31593000_31593002del , CM000680.2:g.31593000_31593002del	GRCh38
NC_000018.9:g.29172963_29172965del , CM000680.1:g.29172963_29172965del	GRCh37
NC_000018.8:g.27426961_27426963del	NCBI36
NG_009490.1:g.6234_6236del , LRG_416:g.6234_6236del

Transcript Alleles

HGVS	Amino-acid change
ENST00000237014.8:c.174_176del MANE Select	ENSP00000237014.4:p.Asp59del
ENST00000610404.5:c.78_80del	ENSP00000477599.2:p.Asp27del
ENST00000649620.1:c.174_176del	ENSP00000497927.1:p.Asp59del
ENST00000237014.7:c.174_176del	ENSP00000237014.3:p.Asp59del
ENST00000432547.7:n.200_202del
ENST00000541025.2:n.200_202del
ENST00000610404.4:c.174_176del	ENSP00000477599.1:p.Asp59del
ENST00000613781.1:c.174_176del	ENSP00000479174.1:p.Asp59del
NM_000371.3:c.174_176del , LRG_416t1:c.174_176del	NP_000362.1:p.Asp59del
NM_000371.4:c.174_176del MANE Select	NP_000362.1:p.Asp59del