Canonical Allele Identifier: CA2580615751

Gene: LRP5

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68425190_68425192del , CM000673.2:g.68425190_68425192del	GRCh38
NC_000011.9:g.68192658_68192660del , CM000673.1:g.68192658_68192660del	GRCh37
NC_000011.8:g.67949234_67949236del	NCBI36
NG_015835.1:g.117551_117553del
NG_015835.2:g.117551_117553del

Transcript Alleles

HGVS	Amino-acid Change
NM_002335.4:c.3325_3327del MANE Select	NP_002326.2:p.Thr1109del
ENST00000294304.12:c.3325_3327del MANE Select	ENSP00000294304.6:p.Thr1109del
NM_001291902.1:c.1582_1584del	NP_001278831.1:p.Thr528del
NM_001291902.2:c.1582_1584del	NP_001278831.1:p.Thr528del
NM_002335.3:c.3325_3327del	NP_002326.2:p.Thr1109del
ENST00000294304.11:c.3325_3327del	ENSP00000294304.6:p.Thr1109del
ENST00000529993.5:c.*1931_*1933del	ENSP00000436652.1:n.*1931_*1933del
XM_005273994.2:c.3325_3327del	XP_005274051.1:p.Thr1109del
XM_011545029.1:c.3352_3354del	XP_011543331.1:p.Thr1118del
XM_011545030.1:c.3352_3354del	XP_011543332.1:p.Thr1118del
XM_011545031.1:c.3352_3354del	XP_011543333.1:p.Thr1118del
XM_017017735.1:c.1582_1584del	XP_016873224.1:p.Thr528del
XM_017017736.1:c.865_867del	XP_016873225.1:p.Thr289del
XR_949925.1:n.3367_3369del
XR_949925.2:n.3367_3369del
XR_949926.1:n.3367_3369del
XR_949926.2:n.3367_3369del