Canonical Allele Identifier: CA2576954202
Gene: LRPPRC HGNC NCBI

Linked Data

ClinVar Variation Id: 1726320
ClinVar RCV Id: RCV002307291

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43918357del , CM000664.2:g.43918357del GRCh38
NC_000002.11:g.44145496del , CM000664.1:g.44145496del GRCh37
NC_000002.10:g.43999000del NCBI36
NG_008247.1:g.82652del

Transcript Alleles

HGVS Amino-acid Change
ENST00000681993.1:n.493del
ENST00000682295.1:c.205del ENSP00000507499.1:p.Ile69SerfsTer13
ENST00000682303.1:c.*2727del ENSP00000508325.1:n.*2727del
ENST00000682308.1:c.2941del ENSP00000507056.1:p.Ile981SerfsTer13
ENST00000682480.1:c.2941del ENSP00000508344.1:p.Ile981SerfsTer13
ENST00000682546.1:c.2938del ENSP00000508188.1:p.Ile980SerfsTer13
ENST00000682585.1:c.2941del ENSP00000506885.1:p.Ile981SerfsTer13
ENST00000682595.1:n.3525del
ENST00000682607.1:c.1359del
ENST00000682779.1:c.2932del ENSP00000507947.1:p.Ile978SerfsTer13
ENST00000682845.1:n.2043del
ENST00000682885.1:c.2896del ENSP00000508036.1:p.Ile966SerfsTer13
ENST00000682933.1:n.3015del
ENST00000683072.1:n.3525del
ENST00000683080.1:n.560del
ENST00000683125.1:c.3049del ENSP00000507939.1:p.Ile1017SerfsTer13
ENST00000683213.1:c.2944del ENSP00000507751.1:p.Ile982SerfsTer13
ENST00000683220.1:c.2971del ENSP00000507151.1:p.Ile991SerfsTer13
ENST00000683236.1:c.271del ENSP00000506891.1:n.271del
ENST00000683329.1:n.3744del
ENST00000683346.1:c.*2816del ENSP00000507458.1:n.*2816del
ENST00000683409.1:n.1548del
ENST00000683459.1:n.3528del
ENST00000683590.1:c.2897-5796del ENSP00000506820.1:n.2897-5796del
ENST00000683623.1:c.2848del ENSP00000507702.1:p.Ile950SerfsTer13
ENST00000683645.1:n.3492del
ENST00000683796.1:c.*2813del ENSP00000508221.1:n.*2813del
ENST00000683802.1:n.5866del
ENST00000683833.1:c.2932del ENSP00000506852.1:p.Ile978SerfsTer13
ENST00000683994.1:c.2941del ENSP00000507181.1:p.Ile981SerfsTer13
ENST00000684290.1:c.*477del ENSP00000507243.1:n.*477del
ENST00000684306.1:c.*2854del ENSP00000508384.1:n.*2854del
ENST00000684341.1:n.2961del
ENST00000684383.1:c.*2579del ENSP00000506863.1:n.*2579del
ENST00000684619.1:c.*2813del ENSP00000508088.1:n.*2813del
ENST00000684705.1:n.62del
ENST00000684743.1:n.3972del
ENST00000260665.12:c.2941del MANE Select ENSP00000260665.7:p.Ile981SerfsTer13
ENST00000260665.11:c.2941del ENSP00000260665.7:p.Ile981SerfsTer13
NM_133259.3:c.2941del NP_573566.2:p.Ile981SerfsTer13
XM_006711915.2:c.2863del XP_006711978.1:p.Ile955SerfsTer13
XM_006711916.2:c.2941del XP_006711979.1:p.Ile981SerfsTer13
XM_011532473.1:c.2941del XP_011530775.1:p.Ile981SerfsTer13
XM_011532474.1:c.2941del XP_011530776.1:p.Ile981SerfsTer13
XM_006711916.3:c.2941del XP_006711979.1:p.Ile981SerfsTer13
XM_017003117.1:c.2863del XP_016858606.1:p.Ile955SerfsTer13
XR_002958896.1:n.2983del
NM_133259.4:c.2941del MANE Select NP_573566.2:p.Ile981SerfsTer13