Canonical Allele Identifier: CA2695227459

Gene: TTR

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31592968_31592969delinsTC , CM000680.2:g.31592968_31592969delinsTC	GRCh38
NC_000018.9:g.29172931_29172932delinsTC , CM000680.1:g.29172931_29172932delinsTC	GRCh37
NC_000018.8:g.27426929_27426930delinsTC	NCBI36
NG_009490.1:g.6202_6203delinsTC , LRG_416:g.6202_6203delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237014.8:c.142_143delinsTC MANE Select	ENSP00000237014.4:p.Val48Ser
ENST00000610404.5:c.46_47delinsTC	ENSP00000477599.2:p.Val16Ser
ENST00000649620.1:c.142_143delinsTC	ENSP00000497927.1:p.Val48Ser
ENST00000237014.7:c.142_143delinsTC	ENSP00000237014.3:p.Val48Ser
ENST00000432547.7:n.168_169delinsTC
ENST00000541025.2:n.168_169delinsTC
ENST00000610404.4:c.142_143delinsTC	ENSP00000477599.1:p.Val48Ser
ENST00000613781.1:c.142_143delinsTC	ENSP00000479174.1:p.Val48Ser
NM_000371.3:c.142_143delinsTC , LRG_416t1:c.142_143delinsTC	NP_000362.1:p.Val48Ser
NM_000371.4:c.142_143delinsTC MANE Select	NP_000362.1:p.Val48Ser