Canonical Allele Identifier: CA16619371
Gene: LTBP3 HGNC NCBI

Linked Data

ClinVar Variation Id: 420636
ClinVar RCV Id: RCV000484725
dbSNP Id: rs1064794603

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.65547702_65547703delinsAG , CM000673.2:g.65547702_65547703delinsAG GRCh38
NC_000011.9:g.65315173_65315174delinsAG , CM000673.1:g.65315173_65315174delinsAG GRCh37
NC_000011.8:g.65071749_65071750delinsAG NCBI36
NG_016437.1:g.15526_15527delinsCT

Transcript Alleles

HGVS Amino-acid change
ENST00000526825.6:c.*1228_*1229delinsCT ENSP00000435146.2:n.*1228_*1229delinsCT
ENST00000526927.6:c.1110_1111delinsCT ENSP00000431219.2:p.Arg371Cys
ENST00000530866.6:c.1698_1699delinsCT ENSP00000435276.2:p.Arg567Cys
ENST00000685178.1:n.1637_1638delinsCT
ENST00000688764.1:n.488_489delinsCT
ENST00000689505.1:c.1842_1843delinsCT ENSP00000510401.1:p.Arg615Cys
ENST00000301873.11:c.1965_1966delinsCT MANE Select ENSP00000301873.5:p.Arg656Cys
ENST00000301873.9:c.1965_1966delinsCT ENSP00000301873.5:p.Arg656Cys
ENST00000322147.8:c.1965_1966delinsCT ENSP00000326647.4:p.Arg656Cys
ENST00000526927.5:c.916_917delinsCT
ENST00000528516.5:c.*1610_*1611delinsCT ENSP00000432350.1:n.*1610_*1611delinsCT
ENST00000530866.5:c.1698_1699delinsCT ENSP00000435276.1:p.Arg567Cys
ENST00000532932.5:c.255_256delinsCT ENSP00000435530.1:p.Arg86Cys
ENST00000536982.5:c.-1027_-1026delinsCT ENSP00000441912.2:n.-1027_-1026delinsCT
NM_001130144.2:c.1965_1966delinsCT NP_001123616.1:p.Arg656Cys
NM_001164266.1:c.1614_1615delinsCT NP_001157738.1:p.Arg539Cys
NM_021070.4:c.1965_1966delinsCT NP_066548.2:p.Arg656Cys
XM_011545032.1:c.1992_1993delinsCT XP_011543334.1:p.Arg665Cys
XM_011545033.1:c.1992_1993delinsCT XP_011543335.1:p.Arg665Cys
XR_949928.1:n.2392_2393delinsCT
XM_011545032.2:c.1992_1993delinsCT XP_011543334.1:p.Arg665Cys
XM_011545033.3:c.1992_1993delinsCT XP_011543335.1:p.Arg665Cys
XM_017017737.2:c.1992_1993delinsCT XP_016873226.1:p.Arg665Cys
XR_001747875.2:n.2415_2416delinsCT
XR_949928.3:n.2415_2416delinsCT
NM_001130144.3:c.1965_1966delinsCT MANE Select NP_001123616.1:p.Arg656Cys