Canonical Allele Identifier: CA118110

Gene: LRP5

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68363864_68363873del , CM000673.2:g.68363864_68363873del	GRCh38
NC_000011.9:g.68131332_68131341del , CM000673.1:g.68131332_68131341del	GRCh37
NC_000011.8:g.67887908_67887917del	NCBI36
NG_015835.1:g.56225_56234del
NG_015835.2:g.56225_56234del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294304.12:c.804_813del MANE Select	ENSP00000294304.6:p.Gly269ArgfsTer4
ENST00000294304.11:c.804_813del	ENSP00000294304.6:p.Gly269ArgfsTer4
ENST00000529993.5:c.804_813del	ENSP00000436652.1:p.Gly269ArgfsTer4
NM_001291902.1:c.-962_-953del	NP_001278831.1:n.-962_-953del
NM_002335.3:c.804_813del	NP_002326.2:p.Gly269ArgfsTer4
XM_005273994.2:c.804_813del	XP_005274051.1:p.Gly269ArgfsTer4
XM_011545029.1:c.831_840del	XP_011543331.1:p.Gly278ArgfsTer4
XM_011545030.1:c.831_840del	XP_011543332.1:p.Gly278ArgfsTer4
XM_011545031.1:c.831_840del	XP_011543333.1:p.Gly278ArgfsTer4
XR_949925.1:n.846_855del
XR_949926.1:n.846_855del
XR_001747874.1:n.846_855del
XR_949925.2:n.846_855del
XR_949926.2:n.846_855del
NM_002335.4:c.804_813del MANE Select	NP_002326.2:p.Gly269ArgfsTer4
NM_001291902.2:c.-962_-953del	NP_001278831.1:n.-962_-953del