Canonical Allele Identifier: CA2792540175

Gene: LRP5

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68403892_68403893del , CM000673.2:g.68403892_68403893del	GRCh38
NC_000011.9:g.68171360_68171361del , CM000673.1:g.68171360_68171361del	GRCh37
NC_000011.8:g.67927936_67927937del	NCBI36
NG_015835.1:g.96253_96254del
NG_015835.2:g.96253_96254del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294304.12:c.1801+193_1801+194del MANE Select	ENSP00000294304.6:n.1801+193_1801+194del
ENST00000294304.11:c.1801+193_1801+194del	ENSP00000294304.6:n.1801+193_1801+194del
ENST00000529993.5:c.*213+193_*213+194del	ENSP00000436652.1:n.*213+193_*213+194del
NM_001291902.1:c.-137+193_-137+194del	NP_001278831.1:n.-137+193_-137+194del
NM_002335.3:c.1801+193_1801+194del	NP_002326.2:n.1801+193_1801+194del
XM_005273994.2:c.1801+193_1801+194del	XP_005274051.1:n.1801+193_1801+194del
XM_011545029.1:c.1828+193_1828+194del	XP_011543331.1:n.1828+193_1828+194del
XM_011545030.1:c.1828+193_1828+194del	XP_011543332.1:n.1828+193_1828+194del
XM_011545031.1:c.1828+193_1828+194del	XP_011543333.1:n.1828+193_1828+194del
XR_949925.1:n.1843+193_1843+194del
XR_949926.1:n.1843+193_1843+194del
XR_001747874.1:n.1843+193_1843+194del
XR_949925.2:n.1843+193_1843+194del
XR_949926.2:n.1843+193_1843+194del
NM_002335.4:c.1801+193_1801+194del MANE Select	NP_002326.2:n.1801+193_1801+194del
NM_001291902.2:c.-137+193_-137+194del	NP_001278831.1:n.-137+193_-137+194del