Canonical Allele Identifier: CA919958674

Gene: TTR

Linked Data

• dbSNP Id: rs1598844211

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31592997_31592998insCTGAGG , CM000680.2:g.31592997_31592998insCTGAGG	GRCh38
NC_000018.9:g.29172960_29172961insCTGAGG , CM000680.1:g.29172960_29172961insCTGAGG	GRCh37
NC_000018.8:g.27426958_27426959insCTGAGG	NCBI36
NG_009490.1:g.6231_6232insCTGAGG , LRG_416:g.6231_6232insCTGAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237014.8:c.171_172insCTGAGG MANE Select	ENSP00000237014.4:p.Ala57_Asp58insLeuArg
ENST00000610404.5:c.75_76insCTGAGG	ENSP00000477599.2:p.Ala25_Asp26insLeuArg
ENST00000649620.1:c.171_172insCTGAGG	ENSP00000497927.1:p.Ala57_Asp58insLeuArg
ENST00000237014.7:c.171_172insCTGAGG	ENSP00000237014.3:p.Ala57_Asp58insLeuArg
ENST00000432547.7:n.197_198insCTGAGG
ENST00000541025.2:n.197_198insCTGAGG
ENST00000610404.4:c.171_172insCTGAGG	ENSP00000477599.1:p.Ala57_Asp58insLeuArg
ENST00000613781.1:c.171_172insCTGAGG	ENSP00000479174.1:p.Ala57_Asp58insLeuArg
NM_000371.3:c.171_172insCTGAGG , LRG_416t1:c.171_172insCTGAGG	NP_000362.1:p.Ala57_Asp58insLeuArg
NM_000371.4:c.171_172insCTGAGG MANE Select	NP_000362.1:p.Ala57_Asp58insLeuArg