Canonical Allele Identifier: CA6149500

Gene: LRP5

Linked Data

• ClinVar Variation Id: 934824
• ClinVar RCV Id: RCV001203297 ; RCV002484093
• dbSNP Id: rs780882911
• ExAC: 11:68174179 TAAC / T
• gnomAD v2: 11-68174179-TAAC-T
• gnomAD v3: 11-68406711-TAAC-T
• gnomAD v4: 11-68406711-TAAC-T
• MyVariant Identifiers: chr11:g.68174180_68174182del (hg19) ; chr11:g.68406712_68406714del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68406715_68406717del , CM000673.2:g.68406715_68406717del	GRCh38
NC_000011.9:g.68174183_68174185del , CM000673.1:g.68174183_68174185del	GRCh37
NC_000011.8:g.67930759_67930761del	NCBI36
NG_015835.1:g.99076_99078del
NG_015835.2:g.99076_99078del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294304.12:c.1993_1995del MANE Select	ENSP00000294304.6:p.Asn665del
ENST00000294304.11:c.1993_1995del	ENSP00000294304.6:p.Asn665del
ENST00000529993.5:c.*599_*601del	ENSP00000436652.1:n.*599_*601del
NM_001291902.1:c.250_252del	NP_001278831.1:p.Asn84del
NM_002335.3:c.1993_1995del	NP_002326.2:p.Asn665del
XM_005273994.2:c.1993_1995del	XP_005274051.1:p.Asn665del
XM_011545029.1:c.2020_2022del	XP_011543331.1:p.Asn674del
XM_011545030.1:c.2020_2022del	XP_011543332.1:p.Asn674del
XM_011545031.1:c.2020_2022del	XP_011543333.1:p.Asn674del
XR_949925.1:n.2035_2037del
XR_949926.1:n.2035_2037del
XM_017017735.1:c.250_252del	XP_016873224.1:p.Asn84del
XR_001747874.1:n.2035_2037del
XR_949925.2:n.2035_2037del
XR_949926.2:n.2035_2037del
NM_002335.4:c.1993_1995del MANE Select	NP_002326.2:p.Asn665del
NM_001291902.2:c.250_252del	NP_001278831.1:p.Asn84del