Canonical Allele Identifier: CA2658837064

Gene: LRPPRC

Linked Data

• gnomAD v4: 2-43918101-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43918103del , CM000664.2:g.43918103del	GRCh38
NC_000002.11:g.44145242del , CM000664.1:g.44145242del	GRCh37
NC_000002.10:g.43998746del	NCBI36
NG_008247.1:g.82904del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681993.1:n.623del
ENST00000682295.1:c.303+154del	ENSP00000507499.1:n.303+154del
ENST00000682303.1:c.*2857del	ENSP00000508325.1:n.*2857del
ENST00000682308.1:c.3071del	ENSP00000507056.1:p.Asn1024IlefsTer17
ENST00000682480.1:c.3089del	ENSP00000508344.1:p.Asn1030IlefsTer17
ENST00000682546.1:c.3068del	ENSP00000508188.1:p.Asn1023IlefsTer17
ENST00000682585.1:c.3071del	ENSP00000506885.1:p.Asn1024IlefsTer17
ENST00000682595.1:n.3655del
ENST00000682607.1:c.1489del
ENST00000682779.1:c.3062del	ENSP00000507947.1:p.Asn1021IlefsTer17
ENST00000682845.1:n.2173del
ENST00000682885.1:c.3026del	ENSP00000508036.1:p.Asn1009IlefsTer17
ENST00000682933.1:n.3145del
ENST00000683072.1:n.3655del
ENST00000683080.1:n.690del
ENST00000683125.1:c.3179del	ENSP00000507939.1:p.Asn1060IlefsTer17
ENST00000683213.1:c.3074del	ENSP00000507751.1:p.Asn1025IlefsTer17
ENST00000683220.1:c.3101del	ENSP00000507151.1:p.Asn1034IlefsTer17
ENST00000683329.1:n.3874del
ENST00000683346.1:c.*2946del	ENSP00000507458.1:n.*2946del
ENST00000683409.1:n.1678del
ENST00000683459.1:n.3658del
ENST00000683590.1:c.2897-5544del	ENSP00000506820.1:n.2897-5544del
ENST00000683623.1:c.2978del	ENSP00000507702.1:p.Asn993IlefsTer17
ENST00000683645.1:n.3622del
ENST00000683796.1:c.*2943del	ENSP00000508221.1:n.*2943del
ENST00000683802.1:n.5996del
ENST00000683833.1:c.3062del	ENSP00000506852.1:p.Asn1021IlefsTer17
ENST00000683994.1:c.3071del	ENSP00000507181.1:p.Asn1024IlefsTer17
ENST00000684290.1:c.*607del	ENSP00000507243.1:n.*607del
ENST00000684306.1:c.*2984del	ENSP00000508384.1:n.*2984del
ENST00000684341.1:n.3091del
ENST00000684383.1:c.*2709del	ENSP00000506863.1:n.*2709del
ENST00000684619.1:c.*2943del	ENSP00000508088.1:n.*2943del
ENST00000684705.1:n.192del
ENST00000684743.1:n.4102del
ENST00000260665.12:c.3071del MANE Select	ENSP00000260665.7:p.Asn1024IlefsTer17
ENST00000260665.11:c.3071del	ENSP00000260665.7:p.Asn1024IlefsTer17
NM_133259.3:c.3071del	NP_573566.2:p.Asn1024IlefsTer17
XM_006711915.2:c.2993del	XP_006711978.1:p.Asn998IlefsTer17
XM_006711916.2:c.3071del	XP_006711979.1:p.Asn1024IlefsTer17
XM_011532473.1:c.3071del	XP_011530775.1:p.Asn1024IlefsTer17
XM_011532474.1:c.3071del	XP_011530776.1:p.Asn1024IlefsTer17
XM_006711916.3:c.3071del	XP_006711979.1:p.Asn1024IlefsTer17
XM_017003117.1:c.2993del	XP_016858606.1:p.Asn998IlefsTer17
XR_002958896.1:n.3113del
NM_133259.4:c.3071del MANE Select	NP_573566.2:p.Asn1024IlefsTer17