Canonical Allele Identifier: CA2658837188

Gene: LRPPRC

Linked Data

• gnomAD v4: 2-43918533-A-AAAAAGGCAAGCACATACGGGGATGGGGGTGTGTGTGGGGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43918533_43918534insAAAAGGCAAGCACATACGGGGATGGGGGTGTGTGTGGGGGG , CM000664.2:g.43918533_43918534insAAAAGGCAAGCACATACGGGGATGGGGGTGTGTGTGGGGGG	GRCh38
NC_000002.11:g.44145672_44145673insAAAAGGCAAGCACATACGGGGATGGGGGTGTGTGTGGGGGG , CM000664.1:g.44145672_44145673insAAAAGGCAAGCACATACGGGGATGGGGGTGTGTGTGGGGGG	GRCh37
NC_000002.10:g.43999176_43999177insAAAAGGCAAGCACATACGGGGATGGGGGTGTGTGTGGGGGG	NCBI36
NG_008247.1:g.82472_82473insCCCCCCACACACACCCCCATCCCCGTATGTGCTTGCCTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681993.1:n.313_314insCCCCCCACACACACCCCCATCCCCGTATGTGCTTGCCTTTT
ENST00000682295.1:c.161-136_161-135insCCCCCCACACACACCCCCATCCCCGTATGTGCTTGCCTTTT	ENSP00000507499.1:n.161-136_161-135insCCCCCCACACACACCCCCATCCC...
ENST00000682303.1:c.*2683-136_*2683-135insCCCCCCACACACACCCCCATCCCCGTATGTGCTTGCCTTTT	ENSP00000508325.1:n.*2683-136_*2683-135insCCCCCCACACACACCCCCA...
ENST00000682308.1:c.2897-136_2897-135insCCCCCCACACACACCCCCATCCCCGTATGTGCTTGCCTTTT	ENSP00000507056.1:n.2897-136_2897-135insCCCCCCACACACACCCCCATC...
ENST00000682480.1:c.2897-136_2897-135insCCCCCCACACACACCCCCATCCCCGTATGTGCTTGCCTTTT	ENSP00000508344.1:n.2897-136_2897-135insCCCCCCACACACACCCCCATC...
ENST00000682546.1:c.2894-136_2894-135insCCCCCCACACACACCCCCATCCCCGTATGTGCTTGCCTTTT	ENSP00000508188.1:n.2894-136_2894-135insCCCCCCACACACACCCCCATC...
ENST00000682585.1:c.2897-136_2897-135insCCCCCCACACACACCCCCATCCCCGTATGTGCTTGCCTTTT	ENSP00000506885.1:n.2897-136_2897-135insCCCCCCACACACACCCCCATC...
ENST00000682595.1:n.3481-136_3481-135insCCCCCCACACACACCCCCATCCCCGTATGTGCTTGCCTTTT
ENST00000682607.1:c.1315-136_1315-135insCCCCCCACACACACCCCCATCCCCGTATGTGCTTGCCTTTT
ENST00000682779.1:c.2888-136_2888-135insCCCCCCACACACACCCCCATCCCCGTATGTGCTTGCCTTTT	ENSP00000507947.1:n.2888-136_2888-135insCCCCCCACACACACCCCCATC...
ENST00000682845.1:n.1999-136_1999-135insCCCCCCACACACACCCCCATCCCCGTATGTGCTTGCCTTTT
ENST00000682885.1:c.2852-136_2852-135insCCCCCCACACACACCCCCATCCCCGTATGTGCTTGCCTTTT	ENSP00000508036.1:n.2852-136_2852-135insCCCCCCACACACACCCCCATC...
ENST00000682933.1:n.2971-136_2971-135insCCCCCCACACACACCCCCATCCCCGTATGTGCTTGCCTTTT
ENST00000683072.1:n.3481-136_3481-135insCCCCCCACACACACCCCCATCCCCGTATGTGCTTGCCTTTT
ENST00000683080.1:n.516-136_516-135insCCCCCCACACACACCCCCATCCCCGTATGTGCTTGCCTTTT
ENST00000683125.1:c.3005-136_3005-135insCCCCCCACACACACCCCCATCCCCGTATGTGCTTGCCTTTT	ENSP00000507939.1:n.3005-136_3005-135insCCCCCCACACACACCCCCATC...
ENST00000683213.1:c.2900-136_2900-135insCCCCCCACACACACCCCCATCCCCGTATGTGCTTGCCTTTT	ENSP00000507751.1:n.2900-136_2900-135insCCCCCCACACACACCCCCATC...
ENST00000683220.1:c.2927-136_2927-135insCCCCCCACACACACCCCCATCCCCGTATGTGCTTGCCTTTT	ENSP00000507151.1:n.2927-136_2927-135insCCCCCCACACACACCCCCATC...
ENST00000683236.1:c.227-136_227-135insCCCCCCACACACACCCCCATCCCCGTATGTGCTTGCCTTTT	ENSP00000506891.1:n.227-136_227-135insCCCCCCACACACACCCCCATCCC...
ENST00000683329.1:n.3700-136_3700-135insCCCCCCACACACACCCCCATCCCCGTATGTGCTTGCCTTTT
ENST00000683346.1:c.*2772-136_*2772-135insCCCCCCACACACACCCCCATCCCCGTATGTGCTTGCCTTTT	ENSP00000507458.1:n.*2772-136_*2772-135insCCCCCCACACACACCCCCA...
ENST00000683409.1:n.1368_1369insCCCCCCACACACACCCCCATCCCCGTATGTGCTTGCCTTTT
ENST00000683459.1:n.3484-136_3484-135insCCCCCCACACACACCCCCATCCCCGTATGTGCTTGCCTTTT
ENST00000683590.1:c.2897-5976_2897-5975insCCCCCCACACACACCCCCATCCCCGTATGTGCTTGCCTTTT	ENSP00000506820.1:n.2897-5976_2897-5975insCCCCCCACACACACCCCCA...
ENST00000683623.1:c.2804-136_2804-135insCCCCCCACACACACCCCCATCCCCGTATGTGCTTGCCTTTT	ENSP00000507702.1:n.2804-136_2804-135insCCCCCCACACACACCCCCATC...
ENST00000683645.1:n.3448-136_3448-135insCCCCCCACACACACCCCCATCCCCGTATGTGCTTGCCTTTT
ENST00000683796.1:c.*2769-136_*2769-135insCCCCCCACACACACCCCCATCCCCGTATGTGCTTGCCTTTT	ENSP00000508221.1:n.*2769-136_*2769-135insCCCCCCACACACACCCCCA...
ENST00000683802.1:n.5822-136_5822-135insCCCCCCACACACACCCCCATCCCCGTATGTGCTTGCCTTTT
ENST00000683833.1:c.2888-136_2888-135insCCCCCCACACACACCCCCATCCCCGTATGTGCTTGCCTTTT	ENSP00000506852.1:n.2888-136_2888-135insCCCCCCACACACACCCCCATC...
ENST00000683994.1:c.2897-136_2897-135insCCCCCCACACACACCCCCATCCCCGTATGTGCTTGCCTTTT	ENSP00000507181.1:n.2897-136_2897-135insCCCCCCACACACACCCCCATC...
ENST00000684290.1:c.*433-136_*433-135insCCCCCCACACACACCCCCATCCCCGTATGTGCTTGCCTTTT	ENSP00000507243.1:n.*433-136_*433-135insCCCCCCACACACACCCCCATC...
ENST00000684306.1:c.*2810-136_*2810-135insCCCCCCACACACACCCCCATCCCCGTATGTGCTTGCCTTTT	ENSP00000508384.1:n.*2810-136_*2810-135insCCCCCCACACACACCCCCA...
ENST00000684341.1:n.2917-136_2917-135insCCCCCCACACACACCCCCATCCCCGTATGTGCTTGCCTTTT
ENST00000684383.1:c.*2535-136_*2535-135insCCCCCCACACACACCCCCATCCCCGTATGTGCTTGCCTTTT	ENSP00000506863.1:n.*2535-136_*2535-135insCCCCCCACACACACCCCCA...
ENST00000684619.1:c.*2769-136_*2769-135insCCCCCCACACACACCCCCATCCCCGTATGTGCTTGCCTTTT	ENSP00000508088.1:n.*2769-136_*2769-135insCCCCCCACACACACCCCCA...
ENST00000684743.1:n.3928-136_3928-135insCCCCCCACACACACCCCCATCCCCGTATGTGCTTGCCTTTT
ENST00000260665.12:c.2897-136_2897-135insCCCCCCACACACACCCCCATCCCCGTATGTGCTTGCCTTTT MANE Select	ENSP00000260665.7:n.2897-136_2897-135insCCCCCCACACACACCCCCATC...
ENST00000260665.11:c.2897-136_2897-135insCCCCCCACACACACCCCCATCCCCGTATGTGCTTGCCTTTT	ENSP00000260665.7:n.2897-136_2897-135insCCCCCCACACACACCCCCATC...
NM_133259.3:c.2897-136_2897-135insCCCCCCACACACACCCCCATCCCCGTATGTGCTTGCCTTTT	NP_573566.2:n.2897-136_2897-135insCCCCCCACACACACCCCCATCCCCGTA...
XM_006711915.2:c.2819-136_2819-135insCCCCCCACACACACCCCCATCCCCGTATGTGCTTGCCTTTT	XP_006711978.1:n.2819-136_2819-135insCCCCCCACACACACCCCCATCCCC...
XM_006711916.2:c.2897-136_2897-135insCCCCCCACACACACCCCCATCCCCGTATGTGCTTGCCTTTT	XP_006711979.1:n.2897-136_2897-135insCCCCCCACACACACCCCCATCCCC...
XM_011532473.1:c.2897-136_2897-135insCCCCCCACACACACCCCCATCCCCGTATGTGCTTGCCTTTT	XP_011530775.1:n.2897-136_2897-135insCCCCCCACACACACCCCCATCCCC...
XM_011532474.1:c.2897-136_2897-135insCCCCCCACACACACCCCCATCCCCGTATGTGCTTGCCTTTT	XP_011530776.1:n.2897-136_2897-135insCCCCCCACACACACCCCCATCCCC...
XM_006711916.3:c.2897-136_2897-135insCCCCCCACACACACCCCCATCCCCGTATGTGCTTGCCTTTT	XP_006711979.1:n.2897-136_2897-135insCCCCCCACACACACCCCCATCCCC...
XM_017003117.1:c.2819-136_2819-135insCCCCCCACACACACCCCCATCCCCGTATGTGCTTGCCTTTT	XP_016858606.1:n.2819-136_2819-135insCCCCCCACACACACCCCCATCCCC...
XR_002958896.1:n.2939-136_2939-135insCCCCCCACACACACCCCCATCCCCGTATGTGCTTGCCTTTT
NM_133259.4:c.2897-136_2897-135insCCCCCCACACACACCCCCATCCCCGTATGTGCTTGCCTTTT MANE Select	NP_573566.2:n.2897-136_2897-135insCCCCCCACACACACCCCCATCCCCGTA...