Canonical Allele Identifier: CA8928412

Gene: TTR

Linked Data

• dbSNP Id: rs778483568
• ExAC: 18:29172905 C / CAG
• gnomAD v2: 18-29172905-C-CAG
• gnomAD v4: 18-31592942-C-CAG
• MyVariant Identifiers: chr18:g.29172905_29172906insAG (hg19) ; chr18:g.31592942_31592943insAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31592942_31592943insAG , CM000680.2:g.31592942_31592943insAG	GRCh38
NC_000018.9:g.29172905_29172906insAG , CM000680.1:g.29172905_29172906insAG	GRCh37
NC_000018.8:g.27426903_27426904insAG	NCBI36
NG_009490.1:g.6176_6177insAG , LRG_416:g.6176_6177insAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237014.8:c.116_117insAG MANE Select	ENSP00000237014.4:p.Arg41SerfsTer?
ENST00000610404.5:c.20_21insAG	ENSP00000477599.2:p.Arg9SerfsTer?
ENST00000649620.1:c.116_117insAG	ENSP00000497927.1:p.Arg41SerfsTer?
ENST00000237014.7:c.116_117insAG	ENSP00000237014.3:p.Arg41SerfsTer?
ENST00000432547.7:n.142_143insAG
ENST00000541025.2:n.142_143insAG
ENST00000610404.4:c.116_117insAG	ENSP00000477599.1:p.Arg41SerfsTer?
ENST00000613781.1:c.116_117insAG	ENSP00000479174.1:p.Arg41SerfsTer?
NM_000371.3:c.116_117insAG , LRG_416t1:c.116_117insAG	NP_000362.1:p.Arg41SerfsTer?
NM_000371.4:c.116_117insAG MANE Select	NP_000362.1:p.Arg41SerfsTer?