Canonical Allele Identifier: CA2658834386

Gene: LRPPRC

Linked Data

• gnomAD v4: 2-43899299-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43899302del , CM000664.2:g.43899302del	GRCh38
NC_000002.11:g.44126441del , CM000664.1:g.44126441del	GRCh37
NC_000002.10:g.43979945del	NCBI36
NG_008247.1:g.101706del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.175del
ENST00000472420.6:n.823del
ENST00000483489.2:n.175del
ENST00000681993.1:n.1296del
ENST00000682303.1:c.*3530del	ENSP00000508325.1:n.*3530del
ENST00000682308.1:c.3744del	ENSP00000507056.1:p.Phe1248LeufsTer?
ENST00000682434.1:n.1295del
ENST00000682480.1:c.3762del	ENSP00000508344.1:p.Phe1254LeufsTer?
ENST00000682546.1:c.3741del	ENSP00000508188.1:p.Phe1247LeufsTer?
ENST00000682585.1:c.3744del	ENSP00000506885.1:p.Phe1248LeufsTer?
ENST00000682595.1:n.4328del
ENST00000682607.1:c.2162del
ENST00000682612.1:c.596del
ENST00000682779.1:c.3735del	ENSP00000507947.1:p.Phe1245LeufsTer?
ENST00000682845.1:n.2846del
ENST00000682885.1:c.3699del	ENSP00000508036.1:p.Phe1233LeufsTer?
ENST00000682933.1:n.3818del
ENST00000683002.1:c.596del
ENST00000683072.1:n.4328del
ENST00000683080.1:n.1363del
ENST00000683125.1:c.3852del	ENSP00000507939.1:p.Phe1284LeufsTer?
ENST00000683213.1:c.3747del	ENSP00000507751.1:p.Phe1249LeufsTer?
ENST00000683220.1:c.3774del	ENSP00000507151.1:p.Phe1258LeufsTer?
ENST00000683329.1:n.4547del
ENST00000683346.1:c.*3619del	ENSP00000507458.1:n.*3619del
ENST00000683409.1:n.2351del
ENST00000683459.1:n.4331del
ENST00000683528.1:c.672del
ENST00000683590.1:c.3492del	ENSP00000506820.1:p.Phe1164LeufsTer?
ENST00000683623.1:c.3651del	ENSP00000507702.1:p.Phe1217LeufsTer?
ENST00000683645.1:n.4295del
ENST00000683796.1:c.*3616del	ENSP00000508221.1:n.*3616del
ENST00000683802.1:n.6669del
ENST00000683833.1:c.3735del	ENSP00000506852.1:p.Phe1245LeufsTer?
ENST00000683994.1:c.3744del	ENSP00000507181.1:p.Phe1248LeufsTer?
ENST00000684290.1:c.*1280del	ENSP00000507243.1:n.*1280del
ENST00000684306.1:c.*3657del	ENSP00000508384.1:n.*3657del
ENST00000684341.1:n.3764del
ENST00000684383.1:c.*3382del	ENSP00000506863.1:n.*3382del
ENST00000684418.1:n.4925del
ENST00000684433.1:n.128del
ENST00000684454.1:n.3094del
ENST00000684619.1:c.*3616del	ENSP00000508088.1:n.*3616del
ENST00000684743.1:n.6489del
ENST00000260665.12:c.3744del MANE Select	ENSP00000260665.7:p.Phe1248LeufsTer?
ENST00000260665.11:c.3744del	ENSP00000260665.7:p.Phe1248LeufsTer?
ENST00000463456.5:n.2787del
ENST00000472420.5:n.141del
ENST00000483489.1:n.218del
NM_133259.3:c.3744del	NP_573566.2:p.Phe1248LeufsTer?
XM_006711915.2:c.3666del	XP_006711978.1:p.Phe1222LeufsTer?
XM_011532473.1:c.3744del	XP_011530775.1:p.Phe1248LeufsTer?
XM_011532474.1:c.3744del	XP_011530776.1:p.Phe1248LeufsTer?
XM_017003117.1:c.3666del	XP_016858606.1:p.Phe1222LeufsTer?
XR_002958896.1:n.3786del
NM_133259.4:c.3744del MANE Select	NP_573566.2:p.Phe1248LeufsTer?