Canonical Allele Identifier: CA778415922

Gene: TTR

Linked Data

• dbSNP Id: rs1401310363
• gnomAD v3: 18-31594962-TCA-T
• gnomAD v4: 18-31594962-TCA-T
• MyVariant Identifiers: chr18:g.29174926_29174927del (hg19) ; chr18:g.31594963_31594964del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31594963_31594964del , CM000680.2:g.31594963_31594964del	GRCh38
NC_000018.9:g.29174926_29174927del , CM000680.1:g.29174926_29174927del	GRCh37
NC_000018.8:g.27428924_27428925del	NCBI36
NG_009490.1:g.8197_8198del , LRG_416:g.8197_8198del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237014.8:c.201-157_201-156del MANE Select	ENSP00000237014.4:n.201-157_201-156del
ENST00000610404.5:c.105-157_105-156del	ENSP00000477599.2:n.105-157_105-156del
ENST00000649620.1:c.201-157_201-156del	ENSP00000497927.1:n.201-157_201-156del
ENST00000237014.7:c.201-157_201-156del	ENSP00000237014.3:n.201-157_201-156del
ENST00000541025.2:n.227-157_227-156del
ENST00000610404.4:c.201-157_201-156del	ENSP00000477599.1:n.201-157_201-156del
ENST00000613781.1:c.201-157_201-156del	ENSP00000479174.1:n.201-157_201-156del
NM_000371.3:c.201-157_201-156del , LRG_416t1:c.201-157_201-156del	NP_000362.1:n.201-157_201-156del
NM_000371.4:c.201-157_201-156del MANE Select	NP_000362.1:n.201-157_201-156del