Canonical Allele Identifier: CA2792540299
Gene: LRP5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68406648_68406649insAG , CM000673.2:g.68406648_68406649insAG GRCh38
NC_000011.9:g.68174116_68174117insAG , CM000673.1:g.68174116_68174117insAG GRCh37
NC_000011.8:g.67930692_67930693insAG NCBI36
NG_015835.1:g.99009_99010insAG
NG_015835.2:g.99009_99010insAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000294304.12:c.1926_1927insAG MANE Select ENSP00000294304.6:p.Pro643SerfsTer?
ENST00000294304.11:c.1926_1927insAG ENSP00000294304.6:p.Pro643SerfsTer?
ENST00000529993.5:c.*532_*533insAG ENSP00000436652.1:n.*532_*533insAG
NM_001291902.1:c.183_184insAG NP_001278831.1:p.Pro62SerfsTer?
NM_002335.3:c.1926_1927insAG NP_002326.2:p.Pro643SerfsTer?
XM_005273994.2:c.1926_1927insAG XP_005274051.1:p.Pro643SerfsTer?
XM_011545029.1:c.1953_1954insAG XP_011543331.1:p.Pro652SerfsTer?
XM_011545030.1:c.1953_1954insAG XP_011543332.1:p.Pro652SerfsTer?
XM_011545031.1:c.1953_1954insAG XP_011543333.1:p.Pro652SerfsTer?
XR_949925.1:n.1968_1969insAG
XR_949926.1:n.1968_1969insAG
XM_017017735.1:c.183_184insAG XP_016873224.1:p.Pro62SerfsTer?
XR_001747874.1:n.1968_1969insAG
XR_949925.2:n.1968_1969insAG
XR_949926.2:n.1968_1969insAG
NM_002335.4:c.1926_1927insAG MANE Select NP_002326.2:p.Pro643SerfsTer?
NM_001291902.2:c.183_184insAG NP_001278831.1:p.Pro62SerfsTer?