Canonical Allele Identifier: CA2614713169

Gene: LRP5

Linked Data

• gnomAD v4: 11-68406708-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68406710del , CM000673.2:g.68406710del	GRCh38
NC_000011.9:g.68174178del , CM000673.1:g.68174178del	GRCh37
NC_000011.8:g.67930754del	NCBI36
NG_015835.1:g.99071del
NG_015835.2:g.99071del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294304.12:c.1988del MANE Select	ENSP00000294304.6:p.Asn663IlefsTer?
ENST00000294304.11:c.1988del	ENSP00000294304.6:p.Asn663IlefsTer?
ENST00000529993.5:c.*594del	ENSP00000436652.1:n.*594del
NM_001291902.1:c.245del	NP_001278831.1:p.Asn82IlefsTer?
NM_002335.3:c.1988del	NP_002326.2:p.Asn663IlefsTer?
XM_005273994.2:c.1988del	XP_005274051.1:p.Asn663IlefsTer?
XM_011545029.1:c.2015del	XP_011543331.1:p.Asn672IlefsTer?
XM_011545030.1:c.2015del	XP_011543332.1:p.Asn672IlefsTer?
XM_011545031.1:c.2015del	XP_011543333.1:p.Asn672IlefsTer?
XR_949925.1:n.2030del
XR_949926.1:n.2030del
XM_017017735.1:c.245del	XP_016873224.1:p.Asn82IlefsTer?
XR_001747874.1:n.2030del
XR_949925.2:n.2030del
XR_949926.2:n.2030del
NM_002335.4:c.1988del MANE Select	NP_002326.2:p.Asn663IlefsTer?
NM_001291902.2:c.245del	NP_001278831.1:p.Asn82IlefsTer?