Canonical Allele Identifier: CA6101296

Gene: LTBP3

Linked Data

• ClinVar Variation Id: 403062
• ClinVar RCV Id: RCV000454649 ; RCV001514412
• dbSNP Id: rs71036212
• ExAC: 11:65325325 C / CCAGCAG
• gnomAD v2: 11-65325325-C-CCAGCAG
• gnomAD v3: 11-65557854-C-CCAGCAG
• gnomAD v4: 11-65557854-C-CCAGCAG
• COSMIC: COSM5446057
• MyVariant Identifiers: chr11:g.65325334_65325335insCAGCAG (hg19) ; chr11:g.65325333_65325334insGCAGCA (hg19) ; chr11:g.65325328_65325329insCAGCAG (hg19) ; chr11:g.65325325_65325326insCAGCAG (hg19) ; chr11:g.65557863_65557864insCAGCAG (hg38) ; chr11:g.65557854_65557855insCAGCAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65557880_65557885dup , CM000673.2:g.65557880_65557885dup	GRCh38
NC_000011.9:g.65325351_65325356dup , CM000673.1:g.65325351_65325356dup	GRCh37
NC_000011.8:g.65081927_65081932dup	NCBI36
NG_016437.1:g.5369_5374dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526825.6:c.100_105dup	ENSP00000435146.2:p.Leu35_Gly36insLeuLeu
ENST00000526927.6:c.100_105dup	ENSP00000431219.2:p.Leu35_Gly36insLeuLeu
ENST00000530866.6:c.-19-149_-19-144dup	ENSP00000435276.2:n.-19-149_-19-144dup
ENST00000689505.1:c.100_105dup	ENSP00000510401.1:p.Leu35_Gly36insLeuLeu
ENST00000301873.11:c.100_105dup MANE Select	ENSP00000301873.5:p.Leu35_Gly36insLeuLeu
ENST00000301873.9:c.100_105dup	ENSP00000301873.5:p.Leu35_Gly36insLeuLeu
ENST00000322147.8:c.100_105dup	ENSP00000326647.4:p.Leu35_Gly36insLeuLeu
ENST00000528516.5:c.100_105dup	ENSP00000432350.1:p.Leu35_Gly36insLeuLeu
ENST00000530866.5:c.-19-149_-19-144dup	ENSP00000435276.1:n.-19-149_-19-144dup
ENST00000536982.5:c.-2892_-2887dup	ENSP00000441912.2:n.-2892_-2887dup
NM_001130144.2:c.100_105dup	NP_001123616.1:p.Leu35_Gly36insLeuLeu
NM_001164266.1:c.-248_-243dup	NP_001157738.1:n.-248_-243dup
NM_021070.4:c.100_105dup	NP_066548.2:p.Leu35_Gly36insLeuLeu
XM_011545032.1:c.100_105dup	XP_011543334.1:p.Leu35_Gly36insLeuLeu
XM_011545033.1:c.100_105dup	XP_011543335.1:p.Leu35_Gly36insLeuLeu
XR_949928.1:n.500_505dup
XM_011545032.2:c.100_105dup	XP_011543334.1:p.Leu35_Gly36insLeuLeu
XM_011545033.3:c.100_105dup	XP_011543335.1:p.Leu35_Gly36insLeuLeu
XM_017017737.2:c.100_105dup	XP_016873226.1:p.Leu35_Gly36insLeuLeu
XR_001747875.2:n.523_528dup
XR_949928.3:n.523_528dup
NM_001130144.3:c.100_105dup MANE Select	NP_001123616.1:p.Leu35_Gly36insLeuLeu