Canonical Allele Identifier: CA2580095592

Gene: TTR

Linked Data

• ClinVar Variation Id: 1712259
• ClinVar RCV Id: RCV002294539 ; RCV002427758

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31595139_31595140delinsCT , CM000680.2:g.31595139_31595140delinsCT	GRCh38
NC_000018.9:g.29175102_29175103delinsCT , CM000680.1:g.29175102_29175103delinsCT	GRCh37
NC_000018.8:g.27429100_27429101delinsCT	NCBI36
NG_009490.1:g.8373_8374delinsCT , LRG_416:g.8373_8374delinsCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000237014.8:c.220_221delinsCT MANE Select	ENSP00000237014.4:p.Glu74Leu
ENST00000610404.5:c.124_125delinsCT	ENSP00000477599.2:p.Glu42Leu
ENST00000649620.1:c.220_221delinsCT	ENSP00000497927.1:p.Glu74Leu
ENST00000237014.7:c.220_221delinsCT	ENSP00000237014.3:p.Glu74Leu
ENST00000541025.2:n.246_247delinsCT
ENST00000610404.4:c.220_221delinsCT	ENSP00000477599.1:p.Glu74Leu
ENST00000613781.1:c.220_221delinsCT	ENSP00000479174.1:p.Glu74Leu
NM_000371.3:c.220_221delinsCT , LRG_416t1:c.220_221delinsCT	NP_000362.1:p.Glu74Leu
NM_000371.4:c.220_221delinsCT MANE Select	NP_000362.1:p.Glu74Leu