Canonical Allele Identifier: CA629154887

Gene: TTR

Linked Data

• dbSNP Id: rs1361398041
• gnomAD v2: 18-29175388-GCA-G
• gnomAD v3: 18-31595425-GCA-G
• gnomAD v4: 18-31595425-GCA-G
• MyVariant Identifiers: chr18:g.29175389_29175390del (hg19) ; chr18:g.31595426_31595427del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31595426_31595427del , CM000680.2:g.31595426_31595427del	GRCh38
NC_000018.9:g.29175389_29175390del , CM000680.1:g.29175389_29175390del	GRCh37
NC_000018.8:g.27429387_27429388del	NCBI36
NG_009490.1:g.8660_8661del , LRG_416:g.8660_8661del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237014.8:c.336+171_336+172del MANE Select	ENSP00000237014.4:n.336+171_336+172del
ENST00000610404.5:c.240+171_240+172del	ENSP00000477599.2:n.240+171_240+172del
ENST00000649620.1:c.336+171_336+172del	ENSP00000497927.1:n.336+171_336+172del
ENST00000237014.7:c.336+171_336+172del	ENSP00000237014.3:n.336+171_336+172del
ENST00000541025.2:n.533_534del
ENST00000610404.4:c.357+150_357+151del	ENSP00000477599.1:n.357+150_357+151del
ENST00000613781.1:c.336+171_336+172del	ENSP00000479174.1:n.336+171_336+172del
NM_000371.3:c.336+171_336+172del , LRG_416t1:c.336+171_336+172del	NP_000362.1:n.336+171_336+172del
NM_000371.4:c.336+171_336+172del MANE Select	NP_000362.1:n.336+171_336+172del