Canonical Allele Identifier: CA8928409

Gene: TTR

Linked Data

• ClinVar Variation Id: 1333624
• ClinVar RCV Id: RCV001808840
• dbSNP Id: rs768348156
• ExAC: 18:29172883 C / CTGA
• gnomAD v2: 18-29172883-C-CTGA
• gnomAD v4: 18-31592920-C-CTGA
• MyVariant Identifiers: chr18:g.29172883_29172884insTGA (hg19) ; chr18:g.31592920_31592921insTGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31592923_31592925dup , CM000680.2:g.31592923_31592925dup	GRCh38
NC_000018.9:g.29172886_29172888dup , CM000680.1:g.29172886_29172888dup	GRCh37
NC_000018.8:g.27426884_27426886dup	NCBI36
NG_009490.1:g.6157_6159dup , LRG_416:g.6157_6159dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000237014.8:c.97_99dup MANE Select	ENSP00000237014.4:p.Met33_Val34insMet
ENST00000610404.5:c.1_3dup	ENSP00000477599.2:p.Met1_Val2insMet
ENST00000649620.1:c.97_99dup	ENSP00000497927.1:p.Met33_Val34insMet
ENST00000237014.7:c.97_99dup	ENSP00000237014.3:p.Met33_Val34insMet
ENST00000432547.7:n.123_125dup
ENST00000541025.2:n.123_125dup
ENST00000610404.4:c.97_99dup	ENSP00000477599.1:p.Met33_Val34insMet
ENST00000613781.1:c.97_99dup	ENSP00000479174.1:p.Met33_Val34insMet
NM_000371.3:c.97_99dup , LRG_416t1:c.97_99dup	NP_000362.1:p.Met33_Val34insMet
NM_000371.4:c.97_99dup MANE Select	NP_000362.1:p.Met33_Val34insMet