Canonical Allele Identifier: CA2576954537
Gene: LRPPRC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43948152del , CM000664.2:g.43948152del GRCh38
NC_000002.11:g.44175291del , CM000664.1:g.44175291del GRCh37
NC_000002.10:g.44028795del NCBI36
NG_008247.1:g.52855del

Transcript Alleles

HGVS Amino-acid Change
ENST00000409659.6:c.1891del ENSP00000386562.2:p.Glu631LysfsTer8
ENST00000447246.2:c.1891del ENSP00000403637.2:p.Glu631LysfsTer8
ENST00000681959.1:n.1505del
ENST00000681961.1:n.1911del
ENST00000682104.1:c.1765del ENSP00000507716.1:p.Glu589LysfsTer8
ENST00000682303.1:c.*1763del ENSP00000508325.1:n.*1763del
ENST00000682308.1:c.1891del ENSP00000507056.1:p.Glu631LysfsTer8
ENST00000682480.1:c.1891del ENSP00000508344.1:p.Glu631LysfsTer8
ENST00000682546.1:c.1888del ENSP00000508188.1:p.Glu630LysfsTer8
ENST00000682585.1:c.1891del ENSP00000506885.1:p.Glu631LysfsTer8
ENST00000682595.1:n.2473del
ENST00000682607.1:c.309del
ENST00000682779.1:c.1882del ENSP00000507947.1:p.Glu628LysfsTer8
ENST00000682885.1:c.1891del ENSP00000508036.1:p.Glu631LysfsTer8
ENST00000682933.1:n.1965del
ENST00000683072.1:n.2473del
ENST00000683082.1:n.1909del
ENST00000683125.1:c.1891del ENSP00000507939.1:p.Glu631LysfsTer8
ENST00000683213.1:c.1894del ENSP00000507751.1:p.Glu632LysfsTer8
ENST00000683220.1:c.1921del ENSP00000507151.1:p.Glu641LysfsTer8
ENST00000683329.1:n.2694del
ENST00000683346.1:c.*1766del ENSP00000507458.1:n.*1766del
ENST00000683459.1:n.2478del
ENST00000683590.1:c.1891del ENSP00000506820.1:p.Glu631LysfsTer8
ENST00000683623.1:c.1891del ENSP00000507702.1:p.Glu631LysfsTer8
ENST00000683645.1:n.2442del
ENST00000683694.1:n.642del
ENST00000683796.1:c.*1763del ENSP00000508221.1:n.*1763del
ENST00000683802.1:n.4816del
ENST00000683833.1:c.1882del ENSP00000506852.1:p.Glu628LysfsTer8
ENST00000683934.1:c.1777del
ENST00000683989.1:c.1891del ENSP00000507510.1:p.Glu631LysfsTer8
ENST00000683994.1:c.1891del ENSP00000507181.1:p.Glu631LysfsTer8
ENST00000684290.1:c.1891del ENSP00000507243.1:p.Glu631LysfsTer8
ENST00000684306.1:c.*1804del ENSP00000508384.1:n.*1804del
ENST00000684341.1:n.1911del
ENST00000684383.1:c.*1529del ENSP00000506863.1:n.*1529del
ENST00000684482.1:c.4360del
ENST00000684619.1:c.*1763del ENSP00000508088.1:n.*1763del
ENST00000684743.1:n.2922del
ENST00000260665.12:c.1891del MANE Select ENSP00000260665.7:p.Glu631LysfsTer8
ENST00000260665.11:c.1891del ENSP00000260665.7:p.Glu631LysfsTer8
NM_133259.3:c.1891del NP_573566.2:p.Glu631LysfsTer8
XM_006711915.2:c.1813del XP_006711978.1:p.Glu605LysfsTer8
XM_006711916.2:c.1891del XP_006711979.1:p.Glu631LysfsTer8
XM_011532473.1:c.1891del XP_011530775.1:p.Glu631LysfsTer8
XM_011532474.1:c.1891del XP_011530776.1:p.Glu631LysfsTer8
XM_006711916.3:c.1891del XP_006711979.1:p.Glu631LysfsTer8
XM_017003117.1:c.1813del XP_016858606.1:p.Glu605LysfsTer8
XR_002958896.1:n.1933del
NM_133259.4:c.1891del MANE Select NP_573566.2:p.Glu631LysfsTer8