Canonical Allele Identifier: CA6149710

Gene: LRP5

Linked Data

• ClinVar Variation Id: 988463
• ClinVar RCV Id: RCV001269836
• dbSNP Id: rs770862328
• ExAC: 11:68181317 CGT / C
• gnomAD v2: 11-68181317-CGT-C
• gnomAD v4: 11-68413849-CGT-C
• MyVariant Identifiers: chr11:g.68181318_68181319del (hg19) ; chr11:g.68413850_68413851del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68413851_68413852del , CM000673.2:g.68413851_68413852del	GRCh38
NC_000011.9:g.68181319_68181320del , CM000673.1:g.68181319_68181320del	GRCh37
NC_000011.8:g.67937895_67937896del	NCBI36
NG_015835.1:g.106212_106213del
NG_015835.2:g.106212_106213del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294304.12:c.2666_2667del MANE Select	ENSP00000294304.6:p.Val889AspfsTer16
ENST00000294304.11:c.2666_2667del	ENSP00000294304.6:p.Val889AspfsTer16
ENST00000529993.5:c.*1272_*1273del	ENSP00000436652.1:n.*1272_*1273del
NM_001291902.1:c.923_924del	NP_001278831.1:p.Val308AspfsTer16
NM_002335.3:c.2666_2667del	NP_002326.2:p.Val889AspfsTer16
XM_005273994.2:c.2666_2667del	XP_005274051.1:p.Val889AspfsTer16
XM_011545029.1:c.2693_2694del	XP_011543331.1:p.Val898AspfsTer16
XM_011545030.1:c.2693_2694del	XP_011543332.1:p.Val898AspfsTer16
XM_011545031.1:c.2693_2694del	XP_011543333.1:p.Val898AspfsTer16
XR_949925.1:n.2708_2709del
XR_949926.1:n.2708_2709del
XM_017017735.1:c.923_924del	XP_016873224.1:p.Val308AspfsTer16
XM_017017736.1:c.206_207del	XP_016873225.1:p.Val69AspfsTer16
XR_949925.2:n.2708_2709del
XR_949926.2:n.2708_2709del
NM_002335.4:c.2666_2667del MANE Select	NP_002326.2:p.Val889AspfsTer16
NM_001291902.2:c.923_924del	NP_001278831.1:p.Val308AspfsTer16