Canonical Allele Identifier: CA2293887799
Gene: TTR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31595139_31595140delinsGA , CM000680.2:g.31595139_31595140delinsGA GRCh38
NC_000018.9:g.29175102_29175103delinsGA , CM000680.1:g.29175102_29175103delinsGA GRCh37
NC_000018.8:g.27429100_27429101delinsGA NCBI36
NG_009490.1:g.8373_8374delinsGA , LRG_416:g.8373_8374delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000237014.8:c.220_221delinsGA MANE Select ENSP00000237014.4:p.Glu74=
ENST00000610404.5:c.124_125delinsGA ENSP00000477599.2:p.Glu42=
ENST00000649620.1:c.220_221delinsGA ENSP00000497927.1:p.Glu74=
ENST00000237014.7:c.220_221delinsGA ENSP00000237014.3:p.Glu74=
ENST00000541025.2:n.246_247delinsGA
ENST00000610404.4:c.220_221delinsGA ENSP00000477599.1:p.Glu74=
ENST00000613781.1:c.220_221delinsGA ENSP00000479174.1:p.Glu74=
NM_000371.3:c.220_221delinsGA , LRG_416t1:c.220_221delinsGA NP_000362.1:p.Glu74=
NM_000371.4:c.220_221delinsGA MANE Select NP_000362.1:p.Glu74=