Canonical Allele Identifier: CA2293886833

Gene: TTR

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31592977_31592979delinsCAT , CM000680.2:g.31592977_31592979delinsCAT	GRCh38
NC_000018.9:g.29172940_29172942delinsCAT , CM000680.1:g.29172940_29172942delinsCAT	GRCh37
NC_000018.8:g.27426938_27426940delinsCAT	NCBI36
NG_009490.1:g.6211_6213delinsCAT , LRG_416:g.6211_6213delinsCAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237014.8:c.151_153delinsCAT MANE Select	ENSP00000237014.4:p.His51=
ENST00000610404.5:c.55_57delinsCAT	ENSP00000477599.2:p.His19=
ENST00000649620.1:c.151_153delinsCAT	ENSP00000497927.1:p.His51=
ENST00000237014.7:c.151_153delinsCAT	ENSP00000237014.3:p.His51=
ENST00000432547.7:n.177_179delinsCAT
ENST00000541025.2:n.177_179delinsCAT
ENST00000610404.4:c.151_153delinsCAT	ENSP00000477599.1:p.His51=
ENST00000613781.1:c.151_153delinsCAT	ENSP00000479174.1:p.His51=
NM_000371.3:c.151_153delinsCAT , LRG_416t1:c.151_153delinsCAT	NP_000362.1:p.His51=
NM_000371.4:c.151_153delinsCAT MANE Select	NP_000362.1:p.His51=