Canonical Allele Identifier: CA2540251470

Gene: TTR

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31592908_31592909insAGCAACGCGGGGGTTGCTGCAATCAACCCG , CM000680.2:g.31592908_31592909insAGCAACGCGGGGGTTGCTGCAATCAACCCG	GRCh38
NC_000018.9:g.29172871_29172872insAGCAACGCGGGGGTTGCTGCAATCAACCCG , CM000680.1:g.29172871_29172872insAGCAACGCGGGGGTTGCTGCAATCAACCCG	GRCh37
NC_000018.8:g.27426869_27426870insAGCAACGCGGGGGTTGCTGCAATCAACCCG	NCBI36
NG_009490.1:g.6142_6143insAGCAACGCGGGGGTTGCTGCAATCAACCCG , LRG_416:g.6142_6143insAGCAACGCGGGGGTTGCTGCAATCAACCCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237014.8:c.82_83insAGCAACGCGGGGGTTGCTGCAATCAACCCG MANE Select	ENSP00000237014.4:p.Ser28Ter
ENST00000610404.5:c.-15_-14insAGCAACGCGGGGGTTGCTGCAATCAACCCG	ENSP00000477599.2:n.-15_-14insAGCAACGCGGGGGTTGCTGCAATCAACCCG
ENST00000649620.1:c.82_83insAGCAACGCGGGGGTTGCTGCAATCAACCCG	ENSP00000497927.1:p.Ser28Ter
ENST00000237014.7:c.82_83insAGCAACGCGGGGGTTGCTGCAATCAACCCG	ENSP00000237014.3:p.Ser28Ter
ENST00000432547.7:n.108_109insAGCAACGCGGGGGTTGCTGCAATCAACCCG
ENST00000541025.2:n.108_109insAGCAACGCGGGGGTTGCTGCAATCAACCCG
ENST00000610404.4:c.82_83insAGCAACGCGGGGGTTGCTGCAATCAACCCG	ENSP00000477599.1:p.Ser28Ter
ENST00000613781.1:c.82_83insAGCAACGCGGGGGTTGCTGCAATCAACCCG	ENSP00000479174.1:p.Ser28Ter
NM_000371.3:c.82_83insAGCAACGCGGGGGTTGCTGCAATCAACCCG , LRG_416t1:c.82_83insAGCAACGCGGGGGTTGCTGCAATCAACCCG	NP_000362.1:p.Ser28Ter
NM_000371.4:c.82_83insAGCAACGCGGGGGTTGCTGCAATCAACCCG MANE Select	NP_000362.1:p.Ser28Ter