Canonical Allele Identifier: CA778414602

Gene: TTR

Linked Data

• dbSNP Id: rs1231255948
• gnomAD v3: 18-31592414-AT-A
• gnomAD v4: 18-31592414-AT-A
• MyVariant Identifiers: chr18:g.29172378del (hg19) ; chr18:g.31592415del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31592415del , CM000680.2:g.31592415del	GRCh38
NC_000018.9:g.29172378del , CM000680.1:g.29172378del	GRCh37
NC_000018.8:g.27426376del	NCBI36
NG_009490.1:g.5649del , LRG_416:g.5649del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237014.8:c.69+444del MANE Select	ENSP00000237014.4:n.69+444del
ENST00000610404.5:c.-27-481del	ENSP00000477599.2:n.-27-481del
ENST00000649620.1:c.69+444del	ENSP00000497927.1:n.69+444del
ENST00000237014.7:c.69+444del	ENSP00000237014.3:n.69+444del
ENST00000432547.7:n.95+444del
ENST00000541025.2:n.95+444del
ENST00000610404.4:c.69+444del	ENSP00000477599.1:n.69+444del
ENST00000613781.1:c.69+444del	ENSP00000479174.1:n.69+444del
NM_000371.3:c.69+444del , LRG_416t1:c.69+444del	NP_000362.1:n.69+444del
NM_000371.4:c.69+444del MANE Select	NP_000362.1:n.69+444del