Canonical Allele Identifier: CA2574900820

Gene: LRP5

Linked Data

• ClinVar Variation Id: 2874013
• ClinVar RCV Id: RCV003712229
• gnomAD v4: 11-68403714-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68403717del , CM000673.2:g.68403717del	GRCh38
NC_000011.9:g.68171185del , CM000673.1:g.68171185del	GRCh37
NC_000011.8:g.67927761del	NCBI36
NG_015835.1:g.96078del
NG_015835.2:g.96078del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294304.12:c.1801+18del MANE Select	ENSP00000294304.6:n.1801+18del
ENST00000294304.11:c.1801+18del	ENSP00000294304.6:n.1801+18del
ENST00000529993.5:c.*213+18del	ENSP00000436652.1:n.*213+18del
NM_001291902.1:c.-137+18del	NP_001278831.1:n.-137+18del
NM_002335.3:c.1801+18del	NP_002326.2:n.1801+18del
XM_005273994.2:c.1801+18del	XP_005274051.1:n.1801+18del
XM_011545029.1:c.1828+18del	XP_011543331.1:n.1828+18del
XM_011545030.1:c.1828+18del	XP_011543332.1:n.1828+18del
XM_011545031.1:c.1828+18del	XP_011543333.1:n.1828+18del
XR_949925.1:n.1843+18del
XR_949926.1:n.1843+18del
XR_001747874.1:n.1843+18del
XR_949925.2:n.1843+18del
XR_949926.2:n.1843+18del
NM_002335.4:c.1801+18del MANE Select	NP_002326.2:n.1801+18del
NM_001291902.2:c.-137+18del	NP_001278831.1:n.-137+18del