Canonical Allele Identifier: CA1980652103

Gene: LRP5

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68403879_68403880delinsAG , CM000673.2:g.68403879_68403880delinsAG	GRCh38
NC_000011.9:g.68171347_68171348delinsAG , CM000673.1:g.68171347_68171348delinsAG	GRCh37
NC_000011.8:g.67927923_67927924delinsAG	NCBI36
NG_015835.1:g.96240_96241delinsAG
NG_015835.2:g.96240_96241delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294304.12:c.1801+180_1801+181delinsAG MANE Select	ENSP00000294304.6:n.1801+180_1801+181delinsAG
ENST00000294304.11:c.1801+180_1801+181delinsAG	ENSP00000294304.6:n.1801+180_1801+181delinsAG
ENST00000529993.5:c.*213+180_*213+181delinsAG	ENSP00000436652.1:n.*213+180_*213+181delinsAG
NM_001291902.1:c.-137+180_-137+181delinsAG	NP_001278831.1:n.-137+180_-137+181delinsAG
NM_002335.3:c.1801+180_1801+181delinsAG	NP_002326.2:n.1801+180_1801+181delinsAG
XM_005273994.2:c.1801+180_1801+181delinsAG	XP_005274051.1:n.1801+180_1801+181delinsAG
XM_011545029.1:c.1828+180_1828+181delinsAG	XP_011543331.1:n.1828+180_1828+181delinsAG
XM_011545030.1:c.1828+180_1828+181delinsAG	XP_011543332.1:n.1828+180_1828+181delinsAG
XM_011545031.1:c.1828+180_1828+181delinsAG	XP_011543333.1:n.1828+180_1828+181delinsAG
XR_949925.1:n.1843+180_1843+181delinsAG
XR_949926.1:n.1843+180_1843+181delinsAG
XR_001747874.1:n.1843+180_1843+181delinsAG
XR_949925.2:n.1843+180_1843+181delinsAG
XR_949926.2:n.1843+180_1843+181delinsAG
NM_002335.4:c.1801+180_1801+181delinsAG MANE Select	NP_002326.2:n.1801+180_1801+181delinsAG
NM_001291902.2:c.-137+180_-137+181delinsAG	NP_001278831.1:n.-137+180_-137+181delinsAG