Canonical Allele Identifier: CA8928413

Gene: TTR

Linked Data

• dbSNP Id: rs747925781
• ExAC: 18:29172906 T / TCCTCGGTCAAA
• gnomAD v2: 18-29172906-T-TCCTCGGTCAAA
• gnomAD v4: 18-31592943-T-TCCTCGGTCAAA
• MyVariant Identifiers: chr18:g.29172906_29172907insCCTCGGTCAAA (hg19) ; chr18:g.31592943_31592944insCCTCGGTCAAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31592943_31592944insCCTCGGTCAAA , CM000680.2:g.31592943_31592944insCCTCGGTCAAA	GRCh38
NC_000018.9:g.29172906_29172907insCCTCGGTCAAA , CM000680.1:g.29172906_29172907insCCTCGGTCAAA	GRCh37
NC_000018.8:g.27426904_27426905insCCTCGGTCAAA	NCBI36
NG_009490.1:g.6177_6178insCCTCGGTCAAA , LRG_416:g.6177_6178insCCTCGGTCAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237014.8:c.117_118insCCTCGGTCAAA MANE Select	ENSP00000237014.4:p.Val40ProfsTer?
ENST00000610404.5:c.21_22insCCTCGGTCAAA	ENSP00000477599.2:p.Val8ProfsTer?
ENST00000649620.1:c.117_118insCCTCGGTCAAA	ENSP00000497927.1:p.Val40ProfsTer?
ENST00000237014.7:c.117_118insCCTCGGTCAAA	ENSP00000237014.3:p.Val40ProfsTer?
ENST00000432547.7:n.143_144insCCTCGGTCAAA
ENST00000541025.2:n.143_144insCCTCGGTCAAA
ENST00000610404.4:c.117_118insCCTCGGTCAAA	ENSP00000477599.1:p.Val40ProfsTer?
ENST00000613781.1:c.117_118insCCTCGGTCAAA	ENSP00000479174.1:p.Val40ProfsTer?
NM_000371.3:c.117_118insCCTCGGTCAAA , LRG_416t1:c.117_118insCCTCGGTCAAA	NP_000362.1:p.Val40ProfsTer?
NM_000371.4:c.117_118insCCTCGGTCAAA MANE Select	NP_000362.1:p.Val40ProfsTer?