Canonical Allele Identifier: CA2739270922

Gene: LRPPRC

Linked Data

• ClinVar Variation Id: 2853366
• ClinVar RCV Id: RCV003695997

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43918059_43918060del , CM000664.2:g.43918059_43918060del	GRCh38
NC_000002.11:g.44145198_44145199del , CM000664.1:g.44145198_44145199del	GRCh37
NC_000002.10:g.43998702_43998703del	NCBI36
NG_008247.1:g.82950_82951del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681993.1:n.669_670del
ENST00000682295.1:c.303+200_303+201del	ENSP00000507499.1:n.303+200_303+201del
ENST00000682303.1:c.*2903_*2904del	ENSP00000508325.1:n.*2903_*2904del
ENST00000682308.1:c.3117_3118del	ENSP00000507056.1:p.Leu1040AspfsTer13
ENST00000682480.1:c.3135_3136del	ENSP00000508344.1:p.Leu1046AspfsTer13
ENST00000682546.1:c.3114_3115del	ENSP00000508188.1:p.Leu1039AspfsTer13
ENST00000682585.1:c.3117_3118del	ENSP00000506885.1:p.Leu1040AspfsTer13
ENST00000682595.1:n.3701_3702del
ENST00000682607.1:c.1535_1536del
ENST00000682779.1:c.3108_3109del	ENSP00000507947.1:p.Leu1037AspfsTer13
ENST00000682845.1:n.2219_2220del
ENST00000682885.1:c.3072_3073del	ENSP00000508036.1:p.Leu1025AspfsTer13
ENST00000682933.1:n.3191_3192del
ENST00000683072.1:n.3701_3702del
ENST00000683080.1:n.736_737del
ENST00000683125.1:c.3225_3226del	ENSP00000507939.1:p.Leu1076AspfsTer13
ENST00000683213.1:c.3120_3121del	ENSP00000507751.1:p.Leu1041AspfsTer13
ENST00000683220.1:c.3147_3148del	ENSP00000507151.1:p.Leu1050AspfsTer13
ENST00000683329.1:n.3920_3921del
ENST00000683346.1:c.*2992_*2993del	ENSP00000507458.1:n.*2992_*2993del
ENST00000683409.1:n.1724_1725del
ENST00000683459.1:n.3704_3705del
ENST00000683590.1:c.2897-5498_2897-5497del	ENSP00000506820.1:n.2897-5498_2897-5497del
ENST00000683623.1:c.3024_3025del	ENSP00000507702.1:p.Leu1009AspfsTer13
ENST00000683645.1:n.3668_3669del
ENST00000683796.1:c.*2989_*2990del	ENSP00000508221.1:n.*2989_*2990del
ENST00000683802.1:n.6042_6043del
ENST00000683833.1:c.3108_3109del	ENSP00000506852.1:p.Leu1037AspfsTer13
ENST00000683994.1:c.3117_3118del	ENSP00000507181.1:p.Leu1040AspfsTer13
ENST00000684290.1:c.*653_*654del	ENSP00000507243.1:n.*653_*654del
ENST00000684306.1:c.*3030_*3031del	ENSP00000508384.1:n.*3030_*3031del
ENST00000684341.1:n.3137_3138del
ENST00000684383.1:c.*2755_*2756del	ENSP00000506863.1:n.*2755_*2756del
ENST00000684619.1:c.*2989_*2990del	ENSP00000508088.1:n.*2989_*2990del
ENST00000684705.1:n.238_239del
ENST00000684743.1:n.4148_4149del
ENST00000260665.12:c.3117_3118del MANE Select	ENSP00000260665.7:p.Leu1040AspfsTer13
ENST00000260665.11:c.3117_3118del	ENSP00000260665.7:p.Leu1040AspfsTer13
NM_133259.3:c.3117_3118del	NP_573566.2:p.Leu1040AspfsTer13
XM_006711915.2:c.3039_3040del	XP_006711978.1:p.Leu1014AspfsTer13
XM_006711916.2:c.3117_3118del	XP_006711979.1:p.Leu1040AspfsTer17
XM_011532473.1:c.3117_3118del	XP_011530775.1:p.Leu1040AspfsTer13
XM_011532474.1:c.3117_3118del	XP_011530776.1:p.Leu1040AspfsTer13
XM_006711916.3:c.3117_3118del	XP_006711979.1:p.Leu1040AspfsTer17
XM_017003117.1:c.3039_3040del	XP_016858606.1:p.Leu1014AspfsTer13
XR_002958896.1:n.3159_3160del
NM_133259.4:c.3117_3118del MANE Select	NP_573566.2:p.Leu1040AspfsTer13