Canonical Allele Identifier: CA200424

Gene: LRP5

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68312772_68312774del , CM000673.2:g.68312772_68312774del	GRCh38
NC_000011.9:g.68080240_68080242del , CM000673.1:g.68080240_68080242del	GRCh37
NC_000011.8:g.67836816_67836818del	NCBI36
NG_015835.1:g.5133_5135del
NG_015835.2:g.5133_5135del

Transcript Alleles

HGVS	Amino-acid Change
NM_002335.4:c.58_60del MANE Select	NP_002326.2:p.Leu20del
ENST00000294304.12:c.58_60del MANE Select	ENSP00000294304.6:p.Leu20del
NM_001291902.1:c.-1708_-1706del	NP_001278831.1:n.-1708_-1706del
NM_001291902.2:c.-1708_-1706del	NP_001278831.1:n.-1708_-1706del
NM_002335.3:c.58_60del	NP_002326.2:p.Leu20del
ENST00000294304.11:c.58_60del	ENSP00000294304.6:p.Leu20del
ENST00000529993.5:c.58_60del	ENSP00000436652.1:p.Leu20del
XM_005273994.2:c.58_60del	XP_005274051.1:p.Leu20del
XM_011545029.1:c.118+13774_118+13776del	XP_011543331.1:n.118+13774_118+13776del
XM_011545030.1:c.118+13774_118+13776del	XP_011543332.1:n.118+13774_118+13776del
XM_011545031.1:c.118+13774_118+13776del	XP_011543333.1:n.118+13774_118+13776del
XR_001747874.1:n.133+13774_133+13776del
XR_949925.1:n.133+13774_133+13776del
XR_949925.2:n.133+13774_133+13776del
XR_949926.1:n.133+13774_133+13776del
XR_949926.2:n.133+13774_133+13776del