Canonical Allele Identifier: CA2792540169

Gene: LRP5

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68403886_68403887insAGA , CM000673.2:g.68403886_68403887insAGA	GRCh38
NC_000011.9:g.68171354_68171355insAGA , CM000673.1:g.68171354_68171355insAGA	GRCh37
NC_000011.8:g.67927930_67927931insAGA	NCBI36
NG_015835.1:g.96247_96248insAGA
NG_015835.2:g.96247_96248insAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294304.12:c.1801+187_1801+188insAGA MANE Select	ENSP00000294304.6:n.1801+187_1801+188insAGA
ENST00000294304.11:c.1801+187_1801+188insAGA	ENSP00000294304.6:n.1801+187_1801+188insAGA
ENST00000529993.5:c.*213+187_*213+188insAGA	ENSP00000436652.1:n.*213+187_*213+188insAGA
NM_001291902.1:c.-137+187_-137+188insAGA	NP_001278831.1:n.-137+187_-137+188insAGA
NM_002335.3:c.1801+187_1801+188insAGA	NP_002326.2:n.1801+187_1801+188insAGA
XM_005273994.2:c.1801+187_1801+188insAGA	XP_005274051.1:n.1801+187_1801+188insAGA
XM_011545029.1:c.1828+187_1828+188insAGA	XP_011543331.1:n.1828+187_1828+188insAGA
XM_011545030.1:c.1828+187_1828+188insAGA	XP_011543332.1:n.1828+187_1828+188insAGA
XM_011545031.1:c.1828+187_1828+188insAGA	XP_011543333.1:n.1828+187_1828+188insAGA
XR_949925.1:n.1843+187_1843+188insAGA
XR_949926.1:n.1843+187_1843+188insAGA
XR_001747874.1:n.1843+187_1843+188insAGA
XR_949925.2:n.1843+187_1843+188insAGA
XR_949926.2:n.1843+187_1843+188insAGA
NM_002335.4:c.1801+187_1801+188insAGA MANE Select	NP_002326.2:n.1801+187_1801+188insAGA
NM_001291902.2:c.-137+187_-137+188insAGA	NP_001278831.1:n.-137+187_-137+188insAGA