Canonical Allele Identifier: CA16043763

Gene: LRP5

Linked Data

• ClinVar Variation Id: 374494
• ClinVar RCV Id: RCV000416185
• dbSNP Id: rs1057519126
• MyVariant Identifiers: chr11:g.68115700del (hg19) ; chr11:g.68348232del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68348235del , CM000673.2:g.68348235del	GRCh38
NC_000011.9:g.68115703del , CM000673.1:g.68115703del	GRCh37
NC_000011.8:g.67872279del	NCBI36
NG_015835.1:g.40596del
NG_015835.2:g.40596del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294304.12:c.480del MANE Select	ENSP00000294304.6:p.Ala161LeufsTer?
ENST00000294304.11:c.480del	ENSP00000294304.6:p.Ala161LeufsTer?
ENST00000529993.5:c.480del	ENSP00000436652.1:p.Ala161LeufsTer?
NM_001291902.1:c.-1286del	NP_001278831.1:n.-1286del
NM_002335.3:c.480del	NP_002326.2:p.Ala161LeufsTer?
XM_005273994.2:c.480del	XP_005274051.1:p.Ala161LeufsTer?
XM_011545029.1:c.507del	XP_011543331.1:p.Ala170LeufsTer?
XM_011545030.1:c.507del	XP_011543332.1:p.Ala170LeufsTer?
XM_011545031.1:c.507del	XP_011543333.1:p.Ala170LeufsTer?
XR_949925.1:n.522del
XR_949926.1:n.522del
XR_001747874.1:n.522del
XR_949925.2:n.522del
XR_949926.2:n.522del
NM_002335.4:c.480del MANE Select	NP_002326.2:p.Ala161LeufsTer?
NM_001291902.2:c.-1286del	NP_001278831.1:n.-1286del