Canonical Allele Identifier: CA2658837189

Gene: LRPPRC

Linked Data

• gnomAD v4: 2-43918534-G-GGCAAGCACATACGGGGATGGGGGTGTGTGTGGGGGGGTGGTC

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43918534_43918535insGCAAGCACATACGGGGATGGGGGTGTGTGTGGGGGGGTGGTC , CM000664.2:g.43918534_43918535insGCAAGCACATACGGGGATGGGGGTGTGTGTGGGGGGGTGGTC	GRCh38
NC_000002.11:g.44145673_44145674insGCAAGCACATACGGGGATGGGGGTGTGTGTGGGGGGGTGGTC , CM000664.1:g.44145673_44145674insGCAAGCACATACGGGGATGGGGGTGTGTGTGGGGGGGTGGTC	GRCh37
NC_000002.10:g.43999177_43999178insGCAAGCACATACGGGGATGGGGGTGTGTGTGGGGGGGTGGTC	NCBI36
NG_008247.1:g.82471_82472insGACCACCCCCCCACACACACCCCCATCCCCGTATGTGCTTGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681993.1:n.312_313insGACCACCCCCCCACACACACCCCCATCCCCGTATGTGCTTGC
ENST00000682295.1:c.161-137_161-136insGACCACCCCCCCACACACACCCCCATCCCCGTATGTGCTTGC	ENSP00000507499.1:n.161-137_161-136insGACCACCCCCCCACACACACCCC...
ENST00000682303.1:c.*2683-137_*2683-136insGACCACCCCCCCACACACACCCCCATCCCCGTATGTGCTTGC	ENSP00000508325.1:n.*2683-137_*2683-136insGACCACCCCCCCACACACA...
ENST00000682308.1:c.2897-137_2897-136insGACCACCCCCCCACACACACCCCCATCCCCGTATGTGCTTGC	ENSP00000507056.1:n.2897-137_2897-136insGACCACCCCCCCACACACACC...
ENST00000682480.1:c.2897-137_2897-136insGACCACCCCCCCACACACACCCCCATCCCCGTATGTGCTTGC	ENSP00000508344.1:n.2897-137_2897-136insGACCACCCCCCCACACACACC...
ENST00000682546.1:c.2894-137_2894-136insGACCACCCCCCCACACACACCCCCATCCCCGTATGTGCTTGC	ENSP00000508188.1:n.2894-137_2894-136insGACCACCCCCCCACACACACC...
ENST00000682585.1:c.2897-137_2897-136insGACCACCCCCCCACACACACCCCCATCCCCGTATGTGCTTGC	ENSP00000506885.1:n.2897-137_2897-136insGACCACCCCCCCACACACACC...
ENST00000682595.1:n.3481-137_3481-136insGACCACCCCCCCACACACACCCCCATCCCCGTATGTGCTTGC
ENST00000682607.1:c.1315-137_1315-136insGACCACCCCCCCACACACACCCCCATCCCCGTATGTGCTTGC
ENST00000682779.1:c.2888-137_2888-136insGACCACCCCCCCACACACACCCCCATCCCCGTATGTGCTTGC	ENSP00000507947.1:n.2888-137_2888-136insGACCACCCCCCCACACACACC...
ENST00000682845.1:n.1999-137_1999-136insGACCACCCCCCCACACACACCCCCATCCCCGTATGTGCTTGC
ENST00000682885.1:c.2852-137_2852-136insGACCACCCCCCCACACACACCCCCATCCCCGTATGTGCTTGC	ENSP00000508036.1:n.2852-137_2852-136insGACCACCCCCCCACACACACC...
ENST00000682933.1:n.2971-137_2971-136insGACCACCCCCCCACACACACCCCCATCCCCGTATGTGCTTGC
ENST00000683072.1:n.3481-137_3481-136insGACCACCCCCCCACACACACCCCCATCCCCGTATGTGCTTGC
ENST00000683080.1:n.516-137_516-136insGACCACCCCCCCACACACACCCCCATCCCCGTATGTGCTTGC
ENST00000683125.1:c.3005-137_3005-136insGACCACCCCCCCACACACACCCCCATCCCCGTATGTGCTTGC	ENSP00000507939.1:n.3005-137_3005-136insGACCACCCCCCCACACACACC...
ENST00000683213.1:c.2900-137_2900-136insGACCACCCCCCCACACACACCCCCATCCCCGTATGTGCTTGC	ENSP00000507751.1:n.2900-137_2900-136insGACCACCCCCCCACACACACC...
ENST00000683220.1:c.2927-137_2927-136insGACCACCCCCCCACACACACCCCCATCCCCGTATGTGCTTGC	ENSP00000507151.1:n.2927-137_2927-136insGACCACCCCCCCACACACACC...
ENST00000683236.1:c.227-137_227-136insGACCACCCCCCCACACACACCCCCATCCCCGTATGTGCTTGC	ENSP00000506891.1:n.227-137_227-136insGACCACCCCCCCACACACACCCC...
ENST00000683329.1:n.3700-137_3700-136insGACCACCCCCCCACACACACCCCCATCCCCGTATGTGCTTGC
ENST00000683346.1:c.*2772-137_*2772-136insGACCACCCCCCCACACACACCCCCATCCCCGTATGTGCTTGC	ENSP00000507458.1:n.*2772-137_*2772-136insGACCACCCCCCCACACACA...
ENST00000683409.1:n.1367_1368insGACCACCCCCCCACACACACCCCCATCCCCGTATGTGCTTGC
ENST00000683459.1:n.3484-137_3484-136insGACCACCCCCCCACACACACCCCCATCCCCGTATGTGCTTGC
ENST00000683590.1:c.2897-5977_2897-5976insGACCACCCCCCCACACACACCCCCATCCCCGTATGTGCTTGC	ENSP00000506820.1:n.2897-5977_2897-5976insGACCACCCCCCCACACACA...
ENST00000683623.1:c.2804-137_2804-136insGACCACCCCCCCACACACACCCCCATCCCCGTATGTGCTTGC	ENSP00000507702.1:n.2804-137_2804-136insGACCACCCCCCCACACACACC...
ENST00000683645.1:n.3448-137_3448-136insGACCACCCCCCCACACACACCCCCATCCCCGTATGTGCTTGC
ENST00000683796.1:c.*2769-137_*2769-136insGACCACCCCCCCACACACACCCCCATCCCCGTATGTGCTTGC	ENSP00000508221.1:n.*2769-137_*2769-136insGACCACCCCCCCACACACA...
ENST00000683802.1:n.5822-137_5822-136insGACCACCCCCCCACACACACCCCCATCCCCGTATGTGCTTGC
ENST00000683833.1:c.2888-137_2888-136insGACCACCCCCCCACACACACCCCCATCCCCGTATGTGCTTGC	ENSP00000506852.1:n.2888-137_2888-136insGACCACCCCCCCACACACACC...
ENST00000683994.1:c.2897-137_2897-136insGACCACCCCCCCACACACACCCCCATCCCCGTATGTGCTTGC	ENSP00000507181.1:n.2897-137_2897-136insGACCACCCCCCCACACACACC...
ENST00000684290.1:c.*433-137_*433-136insGACCACCCCCCCACACACACCCCCATCCCCGTATGTGCTTGC	ENSP00000507243.1:n.*433-137_*433-136insGACCACCCCCCCACACACACC...
ENST00000684306.1:c.*2810-137_*2810-136insGACCACCCCCCCACACACACCCCCATCCCCGTATGTGCTTGC	ENSP00000508384.1:n.*2810-137_*2810-136insGACCACCCCCCCACACACA...
ENST00000684341.1:n.2917-137_2917-136insGACCACCCCCCCACACACACCCCCATCCCCGTATGTGCTTGC
ENST00000684383.1:c.*2535-137_*2535-136insGACCACCCCCCCACACACACCCCCATCCCCGTATGTGCTTGC	ENSP00000506863.1:n.*2535-137_*2535-136insGACCACCCCCCCACACACA...
ENST00000684619.1:c.*2769-137_*2769-136insGACCACCCCCCCACACACACCCCCATCCCCGTATGTGCTTGC	ENSP00000508088.1:n.*2769-137_*2769-136insGACCACCCCCCCACACACA...
ENST00000684743.1:n.3928-137_3928-136insGACCACCCCCCCACACACACCCCCATCCCCGTATGTGCTTGC
ENST00000260665.12:c.2897-137_2897-136insGACCACCCCCCCACACACACCCCCATCCCCGTATGTGCTTGC MANE Select	ENSP00000260665.7:n.2897-137_2897-136insGACCACCCCCCCACACACACC...
ENST00000260665.11:c.2897-137_2897-136insGACCACCCCCCCACACACACCCCCATCCCCGTATGTGCTTGC	ENSP00000260665.7:n.2897-137_2897-136insGACCACCCCCCCACACACACC...
NM_133259.3:c.2897-137_2897-136insGACCACCCCCCCACACACACCCCCATCCCCGTATGTGCTTGC	NP_573566.2:n.2897-137_2897-136insGACCACCCCCCCACACACACCCCCATC...
XM_006711915.2:c.2819-137_2819-136insGACCACCCCCCCACACACACCCCCATCCCCGTATGTGCTTGC	XP_006711978.1:n.2819-137_2819-136insGACCACCCCCCCACACACACCCCC...
XM_006711916.2:c.2897-137_2897-136insGACCACCCCCCCACACACACCCCCATCCCCGTATGTGCTTGC	XP_006711979.1:n.2897-137_2897-136insGACCACCCCCCCACACACACCCCC...
XM_011532473.1:c.2897-137_2897-136insGACCACCCCCCCACACACACCCCCATCCCCGTATGTGCTTGC	XP_011530775.1:n.2897-137_2897-136insGACCACCCCCCCACACACACCCCC...
XM_011532474.1:c.2897-137_2897-136insGACCACCCCCCCACACACACCCCCATCCCCGTATGTGCTTGC	XP_011530776.1:n.2897-137_2897-136insGACCACCCCCCCACACACACCCCC...
XM_006711916.3:c.2897-137_2897-136insGACCACCCCCCCACACACACCCCCATCCCCGTATGTGCTTGC	XP_006711979.1:n.2897-137_2897-136insGACCACCCCCCCACACACACCCCC...
XM_017003117.1:c.2819-137_2819-136insGACCACCCCCCCACACACACCCCCATCCCCGTATGTGCTTGC	XP_016858606.1:n.2819-137_2819-136insGACCACCCCCCCACACACACCCCC...
XR_002958896.1:n.2939-137_2939-136insGACCACCCCCCCACACACACCCCCATCCCCGTATGTGCTTGC
NM_133259.4:c.2897-137_2897-136insGACCACCCCCCCACACACACCCCCATCCCCGTATGTGCTTGC MANE Select	NP_573566.2:n.2897-137_2897-136insGACCACCCCCCCACACACACCCCCATC...