Canonical Allele Identifier: CA2614712485

Gene: LRP5

Linked Data

• gnomAD v4: 11-68403782-GTGT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68403785_68403787del , CM000673.2:g.68403785_68403787del	GRCh38
NC_000011.9:g.68171253_68171255del , CM000673.1:g.68171253_68171255del	GRCh37
NC_000011.8:g.67927829_67927831del	NCBI36
NG_015835.1:g.96146_96148del
NG_015835.2:g.96146_96148del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294304.12:c.1801+86_1801+88del MANE Select	ENSP00000294304.6:n.1801+86_1801+88del
ENST00000294304.11:c.1801+86_1801+88del	ENSP00000294304.6:n.1801+86_1801+88del
ENST00000529993.5:c.*213+86_*213+88del	ENSP00000436652.1:n.*213+86_*213+88del
NM_001291902.1:c.-137+86_-137+88del	NP_001278831.1:n.-137+86_-137+88del
NM_002335.3:c.1801+86_1801+88del	NP_002326.2:n.1801+86_1801+88del
XM_005273994.2:c.1801+86_1801+88del	XP_005274051.1:n.1801+86_1801+88del
XM_011545029.1:c.1828+86_1828+88del	XP_011543331.1:n.1828+86_1828+88del
XM_011545030.1:c.1828+86_1828+88del	XP_011543332.1:n.1828+86_1828+88del
XM_011545031.1:c.1828+86_1828+88del	XP_011543333.1:n.1828+86_1828+88del
XR_949925.1:n.1843+86_1843+88del
XR_949926.1:n.1843+86_1843+88del
XR_001747874.1:n.1843+86_1843+88del
XR_949925.2:n.1843+86_1843+88del
XR_949926.2:n.1843+86_1843+88del
NM_002335.4:c.1801+86_1801+88del MANE Select	NP_002326.2:n.1801+86_1801+88del
NM_001291902.2:c.-137+86_-137+88del	NP_001278831.1:n.-137+86_-137+88del