Canonical Allele Identifier: CA8928395

Gene: TTR

Linked Data

• dbSNP Id: rs748822810
• ExAC: 18:29172813 CT / C
• gnomAD v2: 18-29172813-CT-C
• gnomAD v4: 18-31592850-CT-C
• MyVariant Identifiers: chr18:g.29172814del (hg19) ; chr18:g.31592851del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31592851del , CM000680.2:g.31592851del	GRCh38
NC_000018.9:g.29172814del , CM000680.1:g.29172814del	GRCh37
NC_000018.8:g.27426812del	NCBI36
NG_009490.1:g.6085del , LRG_416:g.6085del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237014.8:c.70-45del MANE Select	ENSP00000237014.4:n.70-45del
ENST00000610404.5:c.-27-45del	ENSP00000477599.2:n.-27-45del
ENST00000649620.1:c.70-45del	ENSP00000497927.1:n.70-45del
ENST00000237014.7:c.70-45del	ENSP00000237014.3:n.70-45del
ENST00000432547.7:n.96-45del
ENST00000541025.2:n.96-45del
ENST00000610404.4:c.70-45del	ENSP00000477599.1:n.70-45del
ENST00000613781.1:c.70-45del	ENSP00000479174.1:n.70-45del
NM_000371.3:c.70-45del , LRG_416t1:c.70-45del	NP_000362.1:n.70-45del
NM_000371.4:c.70-45del MANE Select	NP_000362.1:n.70-45del