Canonical Allele Identifier: CA2573134634

Gene: LRPPRC

Linked Data

• ClinVar Variation Id: 1447712
• ClinVar RCV Id: RCV001979940
• dbSNP Id: rs2104989326

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43899287del , CM000664.2:g.43899287del	GRCh38
NC_000002.11:g.44126426del , CM000664.1:g.44126426del	GRCh37
NC_000002.10:g.43979930del	NCBI36
NG_008247.1:g.101720del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.189del
ENST00000472420.6:n.837del
ENST00000483489.2:n.189del
ENST00000681993.1:n.1310del
ENST00000682303.1:c.*3544del	ENSP00000508325.1:n.*3544del
ENST00000682308.1:c.3758del	ENSP00000507056.1:p.Pro1253LeufsTer27
ENST00000682434.1:n.1309del
ENST00000682480.1:c.3776del	ENSP00000508344.1:p.Pro1259LeufsTer?
ENST00000682546.1:c.3755del	ENSP00000508188.1:p.Pro1252LeufsTer?
ENST00000682585.1:c.3758del	ENSP00000506885.1:p.Pro1253LeufsTer?
ENST00000682595.1:n.4342del
ENST00000682607.1:c.2176del
ENST00000682612.1:c.610del
ENST00000682779.1:c.3749del	ENSP00000507947.1:p.Pro1250LeufsTer?
ENST00000682845.1:n.2860del
ENST00000682885.1:c.3713del	ENSP00000508036.1:p.Pro1238LeufsTer?
ENST00000682933.1:n.3832del
ENST00000683002.1:c.610del
ENST00000683072.1:n.4342del
ENST00000683080.1:n.1377del
ENST00000683125.1:c.3866del	ENSP00000507939.1:p.Pro1289LeufsTer?
ENST00000683213.1:c.3761del	ENSP00000507751.1:p.Pro1254LeufsTer?
ENST00000683220.1:c.3788del	ENSP00000507151.1:p.Pro1263LeufsTer?
ENST00000683329.1:n.4561del
ENST00000683346.1:c.*3633del	ENSP00000507458.1:n.*3633del
ENST00000683409.1:n.2365del
ENST00000683459.1:n.4345del
ENST00000683528.1:c.686del
ENST00000683590.1:c.3506del	ENSP00000506820.1:p.Pro1169LeufsTer27
ENST00000683623.1:c.3665del	ENSP00000507702.1:p.Pro1222LeufsTer?
ENST00000683645.1:n.4309del
ENST00000683796.1:c.*3630del	ENSP00000508221.1:n.*3630del
ENST00000683802.1:n.6683del
ENST00000683833.1:c.3749del	ENSP00000506852.1:p.Pro1250LeufsTer27
ENST00000683994.1:c.3758del	ENSP00000507181.1:p.Pro1253LeufsTer?
ENST00000684290.1:c.*1294del	ENSP00000507243.1:n.*1294del
ENST00000684306.1:c.*3671del	ENSP00000508384.1:n.*3671del
ENST00000684341.1:n.3778del
ENST00000684383.1:c.*3396del	ENSP00000506863.1:n.*3396del
ENST00000684418.1:n.4939del
ENST00000684433.1:n.142del
ENST00000684454.1:n.3108del
ENST00000684619.1:c.*3630del	ENSP00000508088.1:n.*3630del
ENST00000684743.1:n.6503del
ENST00000260665.12:c.3758del MANE Select	ENSP00000260665.7:p.Pro1253LeufsTer?
ENST00000260665.11:c.3758del	ENSP00000260665.7:p.Pro1253LeufsTer?
ENST00000463456.5:n.2801del
ENST00000472420.5:n.155del
ENST00000483489.1:n.232del
NM_133259.3:c.3758del	NP_573566.2:p.Pro1253LeufsTer?
XM_006711915.2:c.3680del	XP_006711978.1:p.Pro1227LeufsTer?
XM_011532473.1:c.3758del	XP_011530775.1:p.Pro1253LeufsTer27
XM_011532474.1:c.3758del	XP_011530776.1:p.Pro1253LeufsTer?
XM_017003117.1:c.3680del	XP_016858606.1:p.Pro1227LeufsTer27
XR_002958896.1:n.3800del
NM_133259.4:c.3758del MANE Select	NP_573566.2:p.Pro1253LeufsTer?