Canonical Allele Identifier: CA2697555399

Gene: TTR

Linked Data

• ClinVar Variation Id: 2683454
• ClinVar RCV Id: RCV003480274

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31593019_31593020del , CM000680.2:g.31593019_31593020del	GRCh38
NC_000018.9:g.29172982_29172983del , CM000680.1:g.29172982_29172983del	GRCh37
NC_000018.8:g.27426980_27426981del	NCBI36
NG_009490.1:g.6253_6254del , LRG_416:g.6253_6254del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237014.8:c.193_194del MANE Select	ENSP00000237014.4:p.Ala65LeufsTer6
ENST00000610404.5:c.97_98del	ENSP00000477599.2:p.Ala33LeufsTer6
ENST00000649620.1:c.193_194del	ENSP00000497927.1:p.Ala65LeufsTer6
ENST00000237014.7:c.193_194del	ENSP00000237014.3:p.Ala65LeufsTer6
ENST00000432547.7:n.219_220del
ENST00000541025.2:n.219_220del
ENST00000610404.4:c.193_194del	ENSP00000477599.1:p.Ala65LeufsTer6
ENST00000613781.1:c.193_194del	ENSP00000479174.1:p.Ala65LeufsTer6
NM_000371.3:c.193_194del , LRG_416t1:c.193_194del	NP_000362.1:p.Ala65LeufsTer6
NM_000371.4:c.193_194del MANE Select	NP_000362.1:p.Ala65LeufsTer6