Canonical Allele Identifier: CA629154410
Gene: TTR HGNC NCBI

Linked Data

ClinVar Variation Id: 2882281
ClinVar RCV Id: RCV003626522
dbSNP Id: rs1204783100
gnomAD v2: 18-29172994-GT-G
gnomAD v4: 18-31593031-GT-G
MyVariant Identifiers: chr18:g.29172995del (hg19) chr18:g.31593032del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31593033del , CM000680.2:g.31593033del GRCh38
NC_000018.9:g.29172996del , CM000680.1:g.29172996del GRCh37
NC_000018.8:g.27426994del NCBI36
NG_009490.1:g.6267del , LRG_416:g.6267del

Transcript Alleles

HGVS Amino-acid change
ENST00000237014.8:c.200+7del MANE Select ENSP00000237014.4:n.200+7del
ENST00000610404.5:c.104+7del ENSP00000477599.2:n.104+7del
ENST00000649620.1:c.200+7del ENSP00000497927.1:n.200+7del
ENST00000237014.7:c.200+7del ENSP00000237014.3:n.200+7del
ENST00000432547.7:n.233del
ENST00000541025.2:n.226+7del
ENST00000610404.4:c.200+7del ENSP00000477599.1:n.200+7del
ENST00000613781.1:c.200+7del ENSP00000479174.1:n.200+7del
NM_000371.3:c.200+7del , LRG_416t1:c.200+7del NP_000362.1:n.200+7del
NM_000371.4:c.200+7del MANE Select NP_000362.1:n.200+7del
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Search 100 bp 3'