Canonical Allele Identifier: CA679608576

Gene: LRP5

Linked Data

• ClinVar Variation Id: 1005795
• ClinVar RCV Id: RCV001302735 ; RCV002504455
• dbSNP Id: rs1292196959
• gnomAD v3: 11-68410140-GGTAA-G
• gnomAD v4: 11-68410140-GGTAA-G
• MyVariant Identifiers: chr11:g.68177609_68177612del (hg19) ; chr11:g.68410141_68410144del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68410143_68410146del , CM000673.2:g.68410143_68410146del	GRCh38
NC_000011.9:g.68177611_68177614del , CM000673.1:g.68177611_68177614del	GRCh37
NC_000011.8:g.67934187_67934190del	NCBI36
NG_015835.1:g.102504_102507del
NG_015835.2:g.102504_102507del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294304.12:c.2318+3_2318+6del MANE Select	ENSP00000294304.6:n.2318+3_2318+6del
ENST00000294304.11:c.2318+3_2318+6del	ENSP00000294304.6:n.2318+3_2318+6del
ENST00000528714.1:n.112+3_112+6del
ENST00000529993.5:c.*924+3_*924+6del	ENSP00000436652.1:n.*924+3_*924+6del
NM_001291902.1:c.575+3_575+6del	NP_001278831.1:n.575+3_575+6del
NM_002335.3:c.2318+3_2318+6del	NP_002326.2:n.2318+3_2318+6del
XM_005273994.2:c.2318+3_2318+6del	XP_005274051.1:n.2318+3_2318+6del
XM_011545029.1:c.2345+3_2345+6del	XP_011543331.1:n.2345+3_2345+6del
XM_011545030.1:c.2345+3_2345+6del	XP_011543332.1:n.2345+3_2345+6del
XM_011545031.1:c.2345+3_2345+6del	XP_011543333.1:n.2345+3_2345+6del
XR_949925.1:n.2360+3_2360+6del
XR_949926.1:n.2360+3_2360+6del
XM_017017735.1:c.575+3_575+6del	XP_016873224.1:n.575+3_575+6del
XR_001747874.1:n.2360+3_2360+6del
XR_949925.2:n.2360+3_2360+6del
XR_949926.2:n.2360+3_2360+6del
NM_002335.4:c.2318+3_2318+6del MANE Select	NP_002326.2:n.2318+3_2318+6del
NM_001291902.2:c.575+3_575+6del	NP_001278831.1:n.575+3_575+6del