Canonical Allele Identifier: CA679599609

Gene: LRP5

Linked Data

• dbSNP Id: rs1341903213
• gnomAD v3: 11-68448458-CACTTTTATCAATGAGAA-C
• gnomAD v4: 11-68448458-CACTTTTATCAATGAGAA-C
• MyVariant Identifiers: chr11:g.68215927_68215943del (hg19) ; chr11:g.68448459_68448475del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68448462_68448478del , CM000673.2:g.68448462_68448478del	GRCh38
NC_000011.9:g.68215930_68215946del , CM000673.1:g.68215930_68215946del	GRCh37
NC_000011.8:g.67972506_67972522del	NCBI36
NG_015835.1:g.140823_140839del
NG_015835.2:g.140823_140839del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294304.12:c.4587-347_4587-331del MANE Select	ENSP00000294304.6:n.4587-347_4587-331del
ENST00000294304.11:c.4587-347_4587-331del	ENSP00000294304.6:n.4587-347_4587-331del
ENST00000529481.1:n.178-347_178-331del
ENST00000529702.1:c.257-347_257-331del
ENST00000529993.5:c.*3193-347_*3193-331del	ENSP00000436652.1:n.*3193-347_*3193-331del
NM_001291902.1:c.2844-347_2844-331del	NP_001278831.1:n.2844-347_2844-331del
NM_002335.3:c.4587-347_4587-331del	NP_002326.2:n.4587-347_4587-331del
XM_005273994.2:c.4701-347_4701-331del	XP_005274051.1:n.4701-347_4701-331del
XM_011545029.1:c.4728-347_4728-331del	XP_011543331.1:n.4728-347_4728-331del
XM_011545030.1:c.4614-347_4614-331del	XP_011543332.1:n.4614-347_4614-331del
XM_011545031.1:c.4744-347_4744-331del	XP_011543333.1:n.4744-347_4744-331del
XR_949925.1:n.4974-347_4974-331del
XR_949926.1:n.4990-347_4990-331del
XM_017017735.1:c.2958-347_2958-331del	XP_016873224.1:n.2958-347_2958-331del
XM_017017736.1:c.2241-347_2241-331del	XP_016873225.1:n.2241-347_2241-331del
XR_949925.2:n.4974-347_4974-331del
XR_949926.2:n.4990-347_4990-331del
NM_002335.4:c.4587-347_4587-331del MANE Select	NP_002326.2:n.4587-347_4587-331del
NM_001291902.2:c.2844-347_2844-331del	NP_001278831.1:n.2844-347_2844-331del