Canonical Allele Identifier: CA658824874

Gene: TTR

Linked Data

• ClinVar Variation Id: 545518
• ClinVar RCV Id: RCV000663430
• dbSNP Id: rs1555631390
• MyVariant Identifiers: chr18:g.29175094_29175099dup (hg19) ; chr18:g.31595131_31595136dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31595131_31595136dup , CM000680.2:g.31595131_31595136dup	GRCh38
NC_000018.9:g.29175094_29175099dup , CM000680.1:g.29175094_29175099dup	GRCh37
NC_000018.8:g.27429092_27429097dup	NCBI36
NG_009490.1:g.8365_8370dup , LRG_416:g.8365_8370dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000237014.8:c.212_217dup MANE Select	ENSP00000237014.4:p.Ser72_Gly73insGluSer
ENST00000610404.5:c.116_121dup	ENSP00000477599.2:p.Ser40_Gly41insGluSer
ENST00000649620.1:c.212_217dup	ENSP00000497927.1:p.Ser72_Gly73insGluSer
ENST00000237014.7:c.212_217dup	ENSP00000237014.3:p.Ser72_Gly73insGluSer
ENST00000541025.2:n.238_243dup
ENST00000610404.4:c.212_217dup	ENSP00000477599.1:p.Ser72_Gly73insGluSer
ENST00000613781.1:c.212_217dup	ENSP00000479174.1:p.Ser72_Gly73insGluSer
NM_000371.3:c.212_217dup , LRG_416t1:c.212_217dup	NP_000362.1:p.Ser72_Gly73insGluSer
NM_000371.4:c.212_217dup MANE Select	NP_000362.1:p.Ser72_Gly73insGluSer