Canonical Allele Identifier: CA10641397

Gene: TTR

Linked Data

• ClinVar Variation Id: 326563
• ClinVar RCV Id: RCV000290123
• dbSNP Id: rs886053745
• MyVariant Identifiers: chr18:g.29178626_29178631del (hg19) ; chr18:g.31598663_31598668del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31598663_31598668del , CM000680.2:g.31598663_31598668del	GRCh38
NC_000018.9:g.29178626_29178631del , CM000680.1:g.29178626_29178631del	GRCh37
NC_000018.8:g.27432624_27432629del	NCBI36
NG_009490.1:g.11897_11902del , LRG_416:g.11897_11902del

Transcript Alleles

HGVS	Amino-acid change
ENST00000237014.8:c.432_437del MANE Select	ENSP00000237014.4:p.Asn144_Pro145del
ENST00000610404.5:c.336_341del	ENSP00000477599.2:p.Asn112_Pro113del
ENST00000649620.1:c.432_437del	ENSP00000497927.1:p.Asn144_Pro145del
ENST00000237014.7:c.432_437del	ENSP00000237014.3:p.Asn144_Pro145del
ENST00000610404.4:c.546_551del	ENSP00000477599.1:p.Asn182_Pro183del
ENST00000613781.1:c.408_413del	ENSP00000479174.1:p.Asn136_Pro137del
NM_000371.3:c.432_437del , LRG_416t1:c.432_437del	NP_000362.1:p.Asn144_Pro145del
NM_000371.4:c.432_437del MANE Select	NP_000362.1:p.Asn144_Pro145del