Canonical Allele Identifier: CA2724479651
Gene: LTBP3 HGNC NCBI

Linked Data

dbSNP Id: rs2135168683

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.65557863_65557864insAAGCAG , CM000673.2:g.65557863_65557864insAAGCAG GRCh38
NC_000011.9:g.65325334_65325335insAAGCAG , CM000673.1:g.65325334_65325335insAAGCAG GRCh37
NC_000011.8:g.65081910_65081911insAAGCAG NCBI36
NG_016437.1:g.5370_5371insTCTGCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000526825.6:c.101_102insTCTGCT ENSP00000435146.2:p.Leu34_Leu35insLeuLeu
ENST00000526927.6:c.101_102insTCTGCT ENSP00000431219.2:p.Leu34_Leu35insLeuLeu
ENST00000530866.6:c.-19-148_-19-147insTCTGCT ENSP00000435276.2:n.-19-148_-19-147insTCTGCT
ENST00000689505.1:c.101_102insTCTGCT ENSP00000510401.1:p.Leu34_Leu35insLeuLeu
ENST00000301873.11:c.101_102insTCTGCT MANE Select ENSP00000301873.5:p.Leu34_Leu35insLeuLeu
ENST00000301873.9:c.101_102insTCTGCT ENSP00000301873.5:p.Leu34_Leu35insLeuLeu
ENST00000322147.8:c.101_102insTCTGCT ENSP00000326647.4:p.Leu34_Leu35insLeuLeu
ENST00000528516.5:c.101_102insTCTGCT ENSP00000432350.1:p.Leu34_Leu35insLeuLeu
ENST00000530866.5:c.-19-148_-19-147insTCTGCT ENSP00000435276.1:n.-19-148_-19-147insTCTGCT
ENST00000536982.5:c.-2891_-2890insTCTGCT ENSP00000441912.2:n.-2891_-2890insTCTGCT
NM_001130144.2:c.101_102insTCTGCT NP_001123616.1:p.Leu34_Leu35insLeuLeu
NM_001164266.1:c.-247_-246insTCTGCT NP_001157738.1:n.-247_-246insTCTGCT
NM_021070.4:c.101_102insTCTGCT NP_066548.2:p.Leu34_Leu35insLeuLeu
XM_011545032.1:c.101_102insTCTGCT XP_011543334.1:p.Leu34_Leu35insLeuLeu
XM_011545033.1:c.101_102insTCTGCT XP_011543335.1:p.Leu34_Leu35insLeuLeu
XR_949928.1:n.501_502insTCTGCT
XM_011545032.2:c.101_102insTCTGCT XP_011543334.1:p.Leu34_Leu35insLeuLeu
XM_011545033.3:c.101_102insTCTGCT XP_011543335.1:p.Leu34_Leu35insLeuLeu
XM_017017737.2:c.101_102insTCTGCT XP_016873226.1:p.Leu34_Leu35insLeuLeu
XR_001747875.2:n.524_525insTCTGCT
XR_949928.3:n.524_525insTCTGCT
NM_001130144.3:c.101_102insTCTGCT MANE Select NP_001123616.1:p.Leu34_Leu35insLeuLeu