Canonical Allele Identifier: CA1980654716

Gene: LRP5

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68406711_68406714delinsTAAC , CM000673.2:g.68406711_68406714delinsTAAC	GRCh38
NC_000011.9:g.68174179_68174182delinsTAAC , CM000673.1:g.68174179_68174182delinsTAAC	GRCh37
NC_000011.8:g.67930755_67930758delinsTAAC	NCBI36
NG_015835.1:g.99072_99075delinsTAAC
NG_015835.2:g.99072_99075delinsTAAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294304.12:c.1989_1992delinsTAAC MANE Select	ENSP00000294304.6:p.Asn663=
ENST00000294304.11:c.1989_1992delinsTAAC	ENSP00000294304.6:p.Asn663=
ENST00000529993.5:c.*595_*598delinsTAAC	ENSP00000436652.1:n.*595_*598delinsTAAC
NM_001291902.1:c.246_249delinsTAAC	NP_001278831.1:p.Asn82=
NM_002335.3:c.1989_1992delinsTAAC	NP_002326.2:p.Asn663=
XM_005273994.2:c.1989_1992delinsTAAC	XP_005274051.1:p.Asn663=
XM_011545029.1:c.2016_2019delinsTAAC	XP_011543331.1:p.Asn672=
XM_011545030.1:c.2016_2019delinsTAAC	XP_011543332.1:p.Asn672=
XM_011545031.1:c.2016_2019delinsTAAC	XP_011543333.1:p.Asn672=
XR_949925.1:n.2031_2034delinsTAAC
XR_949926.1:n.2031_2034delinsTAAC
XM_017017735.1:c.246_249delinsTAAC	XP_016873224.1:p.Asn82=
XR_001747874.1:n.2031_2034delinsTAAC
XR_949925.2:n.2031_2034delinsTAAC
XR_949926.2:n.2031_2034delinsTAAC
NM_002335.4:c.1989_1992delinsTAAC MANE Select	NP_002326.2:p.Asn663=
NM_001291902.2:c.246_249delinsTAAC	NP_001278831.1:p.Asn82=