Canonical Allele Identifier: CA2658836595
Gene: LRPPRC HGNC NCBI

Linked Data

ClinVar Variation Id: 2740639
ClinVar RCV Id: RCV003575816

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43905717del , CM000664.2:g.43905717del GRCh38
NC_000002.11:g.44132856del , CM000664.1:g.44132856del GRCh37
NC_000002.10:g.43986360del NCBI36
NG_008247.1:g.95289del

Transcript Alleles

HGVS Amino-acid Change
ENST00000472420.6:n.418del
ENST00000681993.1:n.891del
ENST00000682295.1:c.494del ENSP00000507499.1:n.494del
ENST00000682303.1:c.*3125del ENSP00000508325.1:n.*3125del
ENST00000682308.1:c.3339del ENSP00000507056.1:p.Gln1114LysfsTer7
ENST00000682480.1:c.3357del ENSP00000508344.1:p.Gln1120LysfsTer7
ENST00000682546.1:c.3336del ENSP00000508188.1:p.Gln1113LysfsTer7
ENST00000682585.1:c.3339del ENSP00000506885.1:p.Gln1114LysfsTer7
ENST00000682595.1:n.3923del
ENST00000682607.1:c.1757del
ENST00000682612.1:c.191del
ENST00000682779.1:c.3330del ENSP00000507947.1:p.Gln1111LysfsTer7
ENST00000682845.1:n.2441del
ENST00000682885.1:c.3294del ENSP00000508036.1:p.Gln1099LysfsTer7
ENST00000682933.1:n.3413del
ENST00000683002.1:c.191del
ENST00000683072.1:n.3923del
ENST00000683080.1:n.958del
ENST00000683125.1:c.3447del ENSP00000507939.1:p.Gln1150LysfsTer7
ENST00000683213.1:c.3342del ENSP00000507751.1:p.Gln1115LysfsTer7
ENST00000683220.1:c.3369del ENSP00000507151.1:p.Gln1124LysfsTer7
ENST00000683329.1:n.4142del
ENST00000683346.1:c.*3214del ENSP00000507458.1:n.*3214del
ENST00000683409.1:n.1946del
ENST00000683459.1:n.3926del
ENST00000683528.1:c.191del
ENST00000683590.1:c.3087del ENSP00000506820.1:p.Gln1030LysfsTer7
ENST00000683623.1:c.3246del ENSP00000507702.1:p.Gln1083LysfsTer7
ENST00000683645.1:n.3890del
ENST00000683796.1:c.*3211del ENSP00000508221.1:n.*3211del
ENST00000683802.1:n.6264del
ENST00000683833.1:c.3330del ENSP00000506852.1:p.Gln1111LysfsTer7
ENST00000683994.1:c.3339del ENSP00000507181.1:p.Gln1114LysfsTer7
ENST00000684290.1:c.*875del ENSP00000507243.1:n.*875del
ENST00000684306.1:c.*3252del ENSP00000508384.1:n.*3252del
ENST00000684341.1:n.3359del
ENST00000684383.1:c.*2977del ENSP00000506863.1:n.*2977del
ENST00000684418.1:n.4520del
ENST00000684454.1:n.2689del
ENST00000684619.1:c.*3211del ENSP00000508088.1:n.*3211del
ENST00000684743.1:n.4370del
ENST00000260665.12:c.3339del MANE Select ENSP00000260665.7:p.Gln1114LysfsTer7
ENST00000260665.11:c.3339del ENSP00000260665.7:p.Gln1114LysfsTer7
NM_133259.3:c.3339del NP_573566.2:p.Gln1114LysfsTer7
XM_006711915.2:c.3261del XP_006711978.1:p.Gln1088LysfsTer7
XM_011532473.1:c.3339del XP_011530775.1:p.Gln1114LysfsTer7
XM_011532474.1:c.3339del XP_011530776.1:p.Gln1114LysfsTer7
XM_017003117.1:c.3261del XP_016858606.1:p.Gln1088LysfsTer7
XR_002958896.1:n.3381del
NM_133259.4:c.3339del MANE Select NP_573566.2:p.Gln1114LysfsTer7