Canonical Allele Identifier: CA915943780

Gene: LRPPRC

Linked Data

• ClinVar Variation Id: 645281
• ClinVar RCV Id: RCV000799334
• dbSNP Id: rs1572894174

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43899246del , CM000664.2:g.43899246del	GRCh38
NC_000002.11:g.44126385del , CM000664.1:g.44126385del	GRCh37
NC_000002.10:g.43979889del	NCBI36
NG_008247.1:g.101761del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.230del
ENST00000472420.6:n.878del
ENST00000483489.2:n.230del
ENST00000681993.1:n.1351del
ENST00000682303.1:c.*3585del	ENSP00000508325.1:n.*3585del
ENST00000682308.1:c.3799del	ENSP00000507056.1:p.Val1267TrpfsTer13
ENST00000682434.1:n.1350del
ENST00000682480.1:c.3817del	ENSP00000508344.1:p.Val1273TrpfsTer?
ENST00000682546.1:c.3796del	ENSP00000508188.1:p.Val1266TrpfsTer?
ENST00000682585.1:c.3799del	ENSP00000506885.1:p.Val1267TrpfsTer?
ENST00000682595.1:n.4383del
ENST00000682607.1:c.2217del
ENST00000682612.1:c.651del
ENST00000682779.1:c.3790del	ENSP00000507947.1:p.Val1264TrpfsTer?
ENST00000682845.1:n.2901del
ENST00000682885.1:c.3754del	ENSP00000508036.1:p.Val1252TrpfsTer?
ENST00000682933.1:n.3873del
ENST00000683002.1:c.651del
ENST00000683072.1:n.4383del
ENST00000683080.1:n.1418del
ENST00000683125.1:c.3907del	ENSP00000507939.1:p.Val1303TrpfsTer?
ENST00000683213.1:c.3802del	ENSP00000507751.1:p.Val1268TrpfsTer?
ENST00000683220.1:c.3829del	ENSP00000507151.1:p.Val1277TrpfsTer?
ENST00000683329.1:n.4602del
ENST00000683346.1:c.*3674del	ENSP00000507458.1:n.*3674del
ENST00000683409.1:n.2406del
ENST00000683459.1:n.4386del
ENST00000683528.1:c.727del
ENST00000683590.1:c.3547del	ENSP00000506820.1:p.Val1183TrpfsTer13
ENST00000683623.1:c.3706del	ENSP00000507702.1:p.Val1236TrpfsTer?
ENST00000683645.1:n.4350del
ENST00000683796.1:c.*3671del	ENSP00000508221.1:n.*3671del
ENST00000683802.1:n.6724del
ENST00000683833.1:c.3790del	ENSP00000506852.1:p.Val1264TrpfsTer13
ENST00000683994.1:c.3799del	ENSP00000507181.1:p.Val1267TrpfsTer?
ENST00000684290.1:c.*1335del	ENSP00000507243.1:n.*1335del
ENST00000684306.1:c.*3712del	ENSP00000508384.1:n.*3712del
ENST00000684341.1:n.3819del
ENST00000684383.1:c.*3437del	ENSP00000506863.1:n.*3437del
ENST00000684418.1:n.4980del
ENST00000684433.1:n.183del
ENST00000684454.1:n.3149del
ENST00000684619.1:c.*3671del	ENSP00000508088.1:n.*3671del
ENST00000684743.1:n.6544del
ENST00000260665.12:c.3799del MANE Select	ENSP00000260665.7:p.Val1267TrpfsTer?
ENST00000260665.11:c.3799del	ENSP00000260665.7:p.Val1267TrpfsTer?
ENST00000419884.5:c.40del	ENSP00000414207.1:p.Val14TrpfsTer?
ENST00000463456.5:n.2842del
ENST00000472420.5:n.196del
ENST00000483489.1:n.273del
NM_133259.3:c.3799del	NP_573566.2:p.Val1267TrpfsTer?
XM_006711915.2:c.3721del	XP_006711978.1:p.Val1241TrpfsTer?
XM_011532473.1:c.3799del	XP_011530775.1:p.Val1267TrpfsTer13
XM_011532474.1:c.3799del	XP_011530776.1:p.Val1267TrpfsTer?
XM_017003117.1:c.3721del	XP_016858606.1:p.Val1241TrpfsTer13
XR_002958896.1:n.3841del
NM_133259.4:c.3799del MANE Select	NP_573566.2:p.Val1267TrpfsTer?