Canonical Allele Identifier: CA599954291

Gene: LRP5

Linked Data

• ClinVar Variation Id: 1456639
• ClinVar RCV Id: RCV001951247
• dbSNP Id: rs1565111276
• gnomAD v2: 11-68201073-C-CGCCCACCTGCTCCCCGGACCAGTTTGCATGTGCCACAGGGGAGATCGACTGT
• gnomAD v4: 11-68433605-C-CGCCCACCTGCTCCCCGGACCAGTTTGCATGTGCCACAGGGGAGATCGACTGT
• MyVariant Identifiers: chr11:g.68201073_68201074insGCCCACCTGCTCCCCGGACCAGTTTGCATGTGCCACAGGGGAGATCGACTGT (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68433606_68433657dup , CM000673.2:g.68433606_68433657dup	GRCh38
NC_000011.9:g.68201074_68201125dup , CM000673.1:g.68201074_68201125dup	GRCh37
NC_000011.8:g.67957650_67957701dup	NCBI36
NG_015835.1:g.125967_126018dup
NG_015835.2:g.125967_126018dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000294304.12:c.3768_3819dup MANE Select	ENSP00000294304.6:p.Ile1274AlafsTer25
ENST00000294304.11:c.3768_3819dup	ENSP00000294304.6:p.Ile1274AlafsTer25
ENST00000529993.5:c.*2374_*2425dup	ENSP00000436652.1:n.*2374_*2425dup
NM_001291902.1:c.2025_2076dup	NP_001278831.1:p.Ile693AlafsTer25
NM_002335.3:c.3768_3819dup	NP_002326.2:p.Ile1274AlafsTer25
XM_005273994.2:c.3768_3819dup	XP_005274051.1:p.Ile1274AlafsTer25
XM_011545029.1:c.3795_3846dup	XP_011543331.1:p.Ile1283AlafsTer25
XM_011545030.1:c.3795_3846dup	XP_011543332.1:p.Ile1283AlafsTer25
XM_011545031.1:c.3795_3846dup	XP_011543333.1:p.Ile1283AlafsTer25
XR_949925.1:n.3810_3861dup
XR_949926.1:n.3810_3861dup
XM_017017735.1:c.2025_2076dup	XP_016873224.1:p.Ile693AlafsTer25
XM_017017736.1:c.1308_1359dup	XP_016873225.1:p.Ile454AlafsTer25
XR_949925.2:n.3810_3861dup
XR_949926.2:n.3810_3861dup
NM_002335.4:c.3768_3819dup MANE Select	NP_002326.2:p.Ile1274AlafsTer25
NM_001291902.2:c.2025_2076dup	NP_001278831.1:p.Ile693AlafsTer25