Canonical Allele Identifier: CA2580066480

Gene: LRPPRC

Linked Data

• ClinVar Variation Id: 1726329
• ClinVar RCV Id: RCV002307300

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43899258del , CM000664.2:g.43899258del	GRCh38
NC_000002.11:g.44126397del , CM000664.1:g.44126397del	GRCh37
NC_000002.10:g.43979901del	NCBI36
NG_008247.1:g.101749del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.218del
ENST00000472420.6:n.866del
ENST00000483489.2:n.218del
ENST00000681993.1:n.1339del
ENST00000682303.1:c.*3573del	ENSP00000508325.1:n.*3573del
ENST00000682308.1:c.3787del	ENSP00000507056.1:p.Asp1263MetfsTer17
ENST00000682434.1:n.1338del
ENST00000682480.1:c.3805del	ENSP00000508344.1:p.Asp1269MetfsTer?
ENST00000682546.1:c.3784del	ENSP00000508188.1:p.Asp1262MetfsTer?
ENST00000682585.1:c.3787del	ENSP00000506885.1:p.Asp1263MetfsTer?
ENST00000682595.1:n.4371del
ENST00000682607.1:c.2205del
ENST00000682612.1:c.639del
ENST00000682779.1:c.3778del	ENSP00000507947.1:p.Asp1260MetfsTer?
ENST00000682845.1:n.2889del
ENST00000682885.1:c.3742del	ENSP00000508036.1:p.Asp1248MetfsTer?
ENST00000682933.1:n.3861del
ENST00000683002.1:c.639del
ENST00000683072.1:n.4371del
ENST00000683080.1:n.1406del
ENST00000683125.1:c.3895del	ENSP00000507939.1:p.Asp1299MetfsTer?
ENST00000683213.1:c.3790del	ENSP00000507751.1:p.Asp1264MetfsTer?
ENST00000683220.1:c.3817del	ENSP00000507151.1:p.Asp1273MetfsTer?
ENST00000683329.1:n.4590del
ENST00000683346.1:c.*3662del	ENSP00000507458.1:n.*3662del
ENST00000683409.1:n.2394del
ENST00000683459.1:n.4374del
ENST00000683528.1:c.715del
ENST00000683590.1:c.3535del	ENSP00000506820.1:p.Asp1179MetfsTer17
ENST00000683623.1:c.3694del	ENSP00000507702.1:p.Asp1232MetfsTer?
ENST00000683645.1:n.4338del
ENST00000683796.1:c.*3659del	ENSP00000508221.1:n.*3659del
ENST00000683802.1:n.6712del
ENST00000683833.1:c.3778del	ENSP00000506852.1:p.Asp1260MetfsTer17
ENST00000683994.1:c.3787del	ENSP00000507181.1:p.Asp1263MetfsTer?
ENST00000684290.1:c.*1323del	ENSP00000507243.1:n.*1323del
ENST00000684306.1:c.*3700del	ENSP00000508384.1:n.*3700del
ENST00000684341.1:n.3807del
ENST00000684383.1:c.*3425del	ENSP00000506863.1:n.*3425del
ENST00000684418.1:n.4968del
ENST00000684433.1:n.171del
ENST00000684454.1:n.3137del
ENST00000684619.1:c.*3659del	ENSP00000508088.1:n.*3659del
ENST00000684743.1:n.6532del
ENST00000260665.12:c.3787del MANE Select	ENSP00000260665.7:p.Asp1263MetfsTer?
ENST00000260665.11:c.3787del	ENSP00000260665.7:p.Asp1263MetfsTer?
ENST00000419884.5:c.28del	ENSP00000414207.1:p.Asp10MetfsTer?
ENST00000463456.5:n.2830del
ENST00000472420.5:n.184del
ENST00000483489.1:n.261del
NM_133259.3:c.3787del	NP_573566.2:p.Asp1263MetfsTer?
XM_006711915.2:c.3709del	XP_006711978.1:p.Asp1237MetfsTer?
XM_011532473.1:c.3787del	XP_011530775.1:p.Asp1263MetfsTer17
XM_011532474.1:c.3787del	XP_011530776.1:p.Asp1263MetfsTer?
XM_017003117.1:c.3709del	XP_016858606.1:p.Asp1237MetfsTer17
XR_002958896.1:n.3829del
NM_133259.4:c.3787del MANE Select	NP_573566.2:p.Asp1263MetfsTer?