Canonical Allele Identifier: CA2580095593

Gene: TTR

Linked Data

• ClinVar Variation Id: 2442894
• ClinVar RCV Id: RCV003150700

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31595150del , CM000680.2:g.31595150del	GRCh38
NC_000018.9:g.29175113del , CM000680.1:g.29175113del	GRCh37
NC_000018.8:g.27429111del	NCBI36
NG_009490.1:g.8384del , LRG_416:g.8384del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237014.8:c.231del MANE Select	ENSP00000237014.4:p.Leu78SerfsTer8
ENST00000610404.5:c.135del	ENSP00000477599.2:p.Leu46SerfsTer8
ENST00000649620.1:c.231del	ENSP00000497927.1:p.Leu78SerfsTer8
ENST00000237014.7:c.231del	ENSP00000237014.3:p.Leu78SerfsTer8
ENST00000541025.2:n.257del
ENST00000610404.4:c.231del	ENSP00000477599.1:p.Leu78SerfsTer8
ENST00000613781.1:c.231del	ENSP00000479174.1:p.Leu78SerfsTer8
NM_000371.3:c.231del , LRG_416t1:c.231del	NP_000362.1:p.Leu78SerfsTer8
NM_000371.4:c.231del MANE Select	NP_000362.1:p.Leu78SerfsTer8