Canonical Allele Identifier: CA919958670
Gene: TTR HGNC NCBI

Linked Data

dbSNP Id: rs1598844132

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31592961_31592966del , CM000680.2:g.31592961_31592966del GRCh38
NC_000018.9:g.29172924_29172929del , CM000680.1:g.29172924_29172929del GRCh37
NC_000018.8:g.27426922_27426927del NCBI36
NG_009490.1:g.6195_6200del , LRG_416:g.6195_6200del

Transcript Alleles

HGVS Amino-acid change
ENST00000237014.8:c.135_140del MANE Select ENSP00000237014.4:p.Ile46_Asn47del
ENST00000610404.5:c.39_44del ENSP00000477599.2:p.Ile14_Asn15del
ENST00000649620.1:c.135_140del ENSP00000497927.1:p.Ile46_Asn47del
ENST00000237014.7:c.135_140del ENSP00000237014.3:p.Ile46_Asn47del
ENST00000432547.7:n.161_166del
ENST00000541025.2:n.161_166del
ENST00000610404.4:c.135_140del ENSP00000477599.1:p.Ile46_Asn47del
ENST00000613781.1:c.135_140del ENSP00000479174.1:p.Ile46_Asn47del
NM_000371.3:c.135_140del , LRG_416t1:c.135_140del NP_000362.1:p.Ile46_Asn47del
NM_000371.4:c.135_140del MANE Select NP_000362.1:p.Ile46_Asn47del