Canonical Allele Identifier: CA2586969036

Gene: LRPPRC

Linked Data

• gnomAD v4: 2-43918025-CTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43918032_43918033del , CM000664.2:g.43918032_43918033del	GRCh38
NC_000002.11:g.44145171_44145172del , CM000664.1:g.44145171_44145172del	GRCh37
NC_000002.10:g.43998675_43998676del	NCBI36
NG_008247.1:g.82979_82980del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681993.1:n.698_699del
ENST00000682295.1:c.303+229_303+230del	ENSP00000507499.1:n.303+229_303+230del
ENST00000682303.1:c.*2932_*2933del	ENSP00000508325.1:n.*2932_*2933del
ENST00000682308.1:c.3146_3147del	ENSP00000507056.1:p.Lys1049ArgfsTer4
ENST00000682480.1:c.3164_3165del	ENSP00000508344.1:p.Lys1055ArgfsTer4
ENST00000682546.1:c.3143_3144del	ENSP00000508188.1:p.Lys1048ArgfsTer4
ENST00000682585.1:c.3146_3147del	ENSP00000506885.1:p.Lys1049ArgfsTer4
ENST00000682595.1:n.3730_3731del
ENST00000682607.1:c.1564_1565del
ENST00000682779.1:c.3137_3138del	ENSP00000507947.1:p.Lys1046ArgfsTer4
ENST00000682845.1:n.2248_2249del
ENST00000682885.1:c.3101_3102del	ENSP00000508036.1:p.Lys1034ArgfsTer4
ENST00000682933.1:n.3220_3221del
ENST00000683072.1:n.3730_3731del
ENST00000683080.1:n.765_766del
ENST00000683125.1:c.3254_3255del	ENSP00000507939.1:p.Lys1085ArgfsTer4
ENST00000683213.1:c.3149_3150del	ENSP00000507751.1:p.Lys1050ArgfsTer4
ENST00000683220.1:c.3176_3177del	ENSP00000507151.1:p.Lys1059ArgfsTer4
ENST00000683329.1:n.3949_3950del
ENST00000683346.1:c.*3021_*3022del	ENSP00000507458.1:n.*3021_*3022del
ENST00000683409.1:n.1753_1754del
ENST00000683459.1:n.3733_3734del
ENST00000683590.1:c.2897-5469_2897-5468del	ENSP00000506820.1:n.2897-5469_2897-5468del
ENST00000683623.1:c.3053_3054del	ENSP00000507702.1:p.Lys1018ArgfsTer4
ENST00000683645.1:n.3697_3698del
ENST00000683796.1:c.*3018_*3019del	ENSP00000508221.1:n.*3018_*3019del
ENST00000683802.1:n.6071_6072del
ENST00000683833.1:c.3137_3138del	ENSP00000506852.1:p.Lys1046ArgfsTer4
ENST00000683994.1:c.3146_3147del	ENSP00000507181.1:p.Lys1049ArgfsTer4
ENST00000684290.1:c.*682_*683del	ENSP00000507243.1:n.*682_*683del
ENST00000684306.1:c.*3059_*3060del	ENSP00000508384.1:n.*3059_*3060del
ENST00000684341.1:n.3166_3167del
ENST00000684383.1:c.*2784_*2785del	ENSP00000506863.1:n.*2784_*2785del
ENST00000684619.1:c.*3018_*3019del	ENSP00000508088.1:n.*3018_*3019del
ENST00000684705.1:n.267_268del
ENST00000684743.1:n.4177_4178del
ENST00000260665.12:c.3146_3147del MANE Select	ENSP00000260665.7:p.Lys1049ArgfsTer4
ENST00000260665.11:c.3146_3147del	ENSP00000260665.7:p.Lys1049ArgfsTer4
NM_133259.3:c.3146_3147del	NP_573566.2:p.Lys1049ArgfsTer4
XM_006711915.2:c.3068_3069del	XP_006711978.1:p.Lys1023ArgfsTer4
XM_006711916.2:c.3146_3147del	XP_006711979.1:p.Arg1050GlyfsTer7
XM_011532473.1:c.3146_3147del	XP_011530775.1:p.Lys1049ArgfsTer4
XM_011532474.1:c.3146_3147del	XP_011530776.1:p.Lys1049ArgfsTer4
XM_006711916.3:c.3146_3147del	XP_006711979.1:p.Arg1050GlyfsTer7
XM_017003117.1:c.3068_3069del	XP_016858606.1:p.Lys1023ArgfsTer4
XR_002958896.1:n.3188_3189del
NM_133259.4:c.3146_3147del MANE Select	NP_573566.2:p.Lys1049ArgfsTer4