Allele Registry

Canonical Allele Identifier: CA118102

Gene: LRP5 HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr11:g.68438453dupC

GRCh37 chr11:g.68205921dupC

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000006668

ClinVar Variation:

6288

dbSNP:

80358321

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68438453dup , CM000673.2:g.68438453dup	GRCh38
NC_000011.9:g.68205921dup , CM000673.1:g.68205921dup	GRCh37
NC_000011.8:g.67962497dup	NCBI36
NG_015835.1:g.130814dup
NG_015835.2:g.130814dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294304.12:c.4119dup MANE Select	ENSP00000294304.6:p.Lys1374GlnfsTer?
ENST00000294304.11:c.4119dup	ENSP00000294304.6:p.Lys1374GlnfsTer?
ENST00000529993.5:c.*2725dup	ENSP00000436652.1:n.*2725dup
NM_001291902.1:c.2376dup	NP_001278831.1:p.Lys793GlnfsTer?
NM_002335.3:c.4119dup	NP_002326.2:p.Lys1374GlnfsTer?
XM_005273994.2:c.4119dup	XP_005274051.1:p.Lys1374GlnfsTer?
XM_011545029.1:c.4146dup	XP_011543331.1:p.Lys1383GlnfsTer?
XM_011545030.1:c.4146dup	XP_011543332.1:p.Lys1383GlnfsTer?
XM_011545031.1:c.4146dup	XP_011543333.1:p.Lys1383GlnfsTer?
XR_949925.1:n.4161dup
XR_949926.1:n.4161dup
XM_017017735.1:c.2376dup	XP_016873224.1:p.Lys793GlnfsTer?
XM_017017736.1:c.1659dup	XP_016873225.1:p.Lys554GlnfsTer?
XR_949925.2:n.4161dup
XR_949926.2:n.4161dup
NM_002335.4:c.4119dup MANE Select	NP_002326.2:p.Lys1374GlnfsTer?
NM_001291902.2:c.2376dup	NP_001278831.1:p.Lys793GlnfsTer?

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