Canonical Allele Identifier: CA8928374

Gene: TTR

Linked Data

• ClinVar Variation Id: 326545
• ClinVar RCV Id: RCV000352471 ; RCV000598794 ; RCV002487438 ; RCV002429287
• dbSNP Id: rs747545126
• ExAC: 18:29171873 C / CTCA
• gnomAD v2: 18-29171873-C-CTCA
• gnomAD v4: 18-31591910-C-CTCA
• MyVariant Identifiers: chr18:g.29171876_29171878dupATC (hg19) ; chr18:g.29171876_29171877insTCA (hg19) ; chr18:g.29171873_29171874insTCA (hg19) ; chr18:g.31591913_31591915dupATC (hg38) ; chr18:g.31591910_31591911insTCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31591913_31591915dup , CM000680.2:g.31591913_31591915dup	GRCh38
NC_000018.9:g.29171876_29171878dup , CM000680.1:g.29171876_29171878dup	GRCh37
NC_000018.8:g.27425874_27425876dup	NCBI36
NG_009490.1:g.5147_5149dup , LRG_416:g.5147_5149dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237014.8:c.11_13dup MANE Select	ENSP00000237014.4:p.His4_Arg5insHis
ENST00000610404.5:c.-27-983_-27-981dup	ENSP00000477599.2:n.-27-983_-27-981dup
ENST00000613781.2:c.11_13dup	ENSP00000479174.2:p.His4_Arg5insHis
ENST00000649620.1:c.11_13dup	ENSP00000497927.1:p.His4_Arg5insHis
ENST00000676075.1:c.11_13dup	ENSP00000502027.1:p.His4_Arg5insHis
ENST00000237014.7:c.11_13dup	ENSP00000237014.3:p.His4_Arg5insHis
ENST00000432547.7:n.37_39dup
ENST00000541025.2:n.37_39dup
ENST00000610404.4:c.11_13dup	ENSP00000477599.1:p.His4_Arg5insHis
ENST00000613781.1:c.11_13dup	ENSP00000479174.1:p.His4_Arg5insHis
NM_000371.3:c.11_13dup , LRG_416t1:c.11_13dup	NP_000362.1:p.His4_Arg5insHis
NM_000371.4:c.11_13dup MANE Select	NP_000362.1:p.His4_Arg5insHis