Canonical Allele Identifier: CA2293886845

Gene: TTR

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31592993_31592995delinsCTG , CM000680.2:g.31592993_31592995delinsCTG	GRCh38
NC_000018.9:g.29172956_29172958delinsCTG , CM000680.1:g.29172956_29172958delinsCTG	GRCh37
NC_000018.8:g.27426954_27426956delinsCTG	NCBI36
NG_009490.1:g.6227_6229delinsCTG , LRG_416:g.6227_6229delinsCTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000237014.8:c.167_169delinsCTG MANE Select	ENSP00000237014.4:p.Ala56=
ENST00000610404.5:c.71_73delinsCTG	ENSP00000477599.2:p.Ala24=
ENST00000649620.1:c.167_169delinsCTG	ENSP00000497927.1:p.Ala56=
ENST00000237014.7:c.167_169delinsCTG	ENSP00000237014.3:p.Ala56=
ENST00000432547.7:n.193_195delinsCTG
ENST00000541025.2:n.193_195delinsCTG
ENST00000610404.4:c.167_169delinsCTG	ENSP00000477599.1:p.Ala56=
ENST00000613781.1:c.167_169delinsCTG	ENSP00000479174.1:p.Ala56=
NM_000371.3:c.167_169delinsCTG , LRG_416t1:c.167_169delinsCTG	NP_000362.1:p.Ala56=
NM_000371.4:c.167_169delinsCTG MANE Select	NP_000362.1:p.Ala56=