Canonical Allele Identifier: CA2293886849

Gene: TTR

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31592996_31592999delinsCTGA , CM000680.2:g.31592996_31592999delinsCTGA	GRCh38
NC_000018.9:g.29172959_29172962delinsCTGA , CM000680.1:g.29172959_29172962delinsCTGA	GRCh37
NC_000018.8:g.27426957_27426960delinsCTGA	NCBI36
NG_009490.1:g.6230_6233delinsCTGA , LRG_416:g.6230_6233delinsCTGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000237014.8:c.170_173delinsCTGA MANE Select	ENSP00000237014.4:p.Ala57=
ENST00000610404.5:c.74_77delinsCTGA	ENSP00000477599.2:p.Ala25=
ENST00000649620.1:c.170_173delinsCTGA	ENSP00000497927.1:p.Ala57=
ENST00000237014.7:c.170_173delinsCTGA	ENSP00000237014.3:p.Ala57=
ENST00000432547.7:n.196_199delinsCTGA
ENST00000541025.2:n.196_199delinsCTGA
ENST00000610404.4:c.170_173delinsCTGA	ENSP00000477599.1:p.Ala57=
ENST00000613781.1:c.170_173delinsCTGA	ENSP00000479174.1:p.Ala57=
NM_000371.3:c.170_173delinsCTGA , LRG_416t1:c.170_173delinsCTGA	NP_000362.1:p.Ala57=
NM_000371.4:c.170_173delinsCTGA MANE Select	NP_000362.1:p.Ala57=