Canonical Allele Identifier: CA2792540075

Gene: LRP5

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68403776_68403777insAGT , CM000673.2:g.68403776_68403777insAGT	GRCh38
NC_000011.9:g.68171244_68171245insAGT , CM000673.1:g.68171244_68171245insAGT	GRCh37
NC_000011.8:g.67927820_67927821insAGT	NCBI36
NG_015835.1:g.96137_96138insAGT
NG_015835.2:g.96137_96138insAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294304.12:c.1801+77_1801+78insAGT MANE Select	ENSP00000294304.6:n.1801+77_1801+78insAGT
ENST00000294304.11:c.1801+77_1801+78insAGT	ENSP00000294304.6:n.1801+77_1801+78insAGT
ENST00000529993.5:c.*213+77_*213+78insAGT	ENSP00000436652.1:n.*213+77_*213+78insAGT
NM_001291902.1:c.-137+77_-137+78insAGT	NP_001278831.1:n.-137+77_-137+78insAGT
NM_002335.3:c.1801+77_1801+78insAGT	NP_002326.2:n.1801+77_1801+78insAGT
XM_005273994.2:c.1801+77_1801+78insAGT	XP_005274051.1:n.1801+77_1801+78insAGT
XM_011545029.1:c.1828+77_1828+78insAGT	XP_011543331.1:n.1828+77_1828+78insAGT
XM_011545030.1:c.1828+77_1828+78insAGT	XP_011543332.1:n.1828+77_1828+78insAGT
XM_011545031.1:c.1828+77_1828+78insAGT	XP_011543333.1:n.1828+77_1828+78insAGT
XR_949925.1:n.1843+77_1843+78insAGT
XR_949926.1:n.1843+77_1843+78insAGT
XR_001747874.1:n.1843+77_1843+78insAGT
XR_949925.2:n.1843+77_1843+78insAGT
XR_949926.2:n.1843+77_1843+78insAGT
NM_002335.4:c.1801+77_1801+78insAGT MANE Select	NP_002326.2:n.1801+77_1801+78insAGT
NM_001291902.2:c.-137+77_-137+78insAGT	NP_001278831.1:n.-137+77_-137+78insAGT