Canonical Allele Identifier: CA2658842540

Gene: LRPPRC

Linked Data

• gnomAD v4: 2-43957587-T-TGCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTC

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43957587_43957588insGCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTC , CM000664.2:g.43957587_43957588insGCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTC	GRCh38
NC_000002.11:g.44184726_44184727insGCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTC , CM000664.1:g.44184726_44184727insGCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTC	GRCh37
NC_000002.10:g.44038230_44038231insGCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTC	NCBI36
NG_008247.1:g.43418_43419insGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409659.6:c.1583-137_1583-136insGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGC	ENSP00000386562.2:n.1583-137_1583-136insGAGGGAGAGGGAGACGGGAGA...
ENST00000447246.2:c.1583-137_1583-136insGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGC	ENSP00000403637.2:n.1583-137_1583-136insGAGGGAGAGGGAGACGGGAGA...
ENST00000467058.2:n.312-137_312-136insGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGC
ENST00000681959.1:n.1197-137_1197-136insGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGC
ENST00000681961.1:n.1603-137_1603-136insGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGC
ENST00000682104.1:c.1457-137_1457-136insGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGC	ENSP00000507716.1:n.1457-137_1457-136insGAGGGAGAGGGAGACGGGAGA...
ENST00000682303.1:c.*1455-137_*1455-136insGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGC	ENSP00000508325.1:n.*1455-137_*1455-136insGAGGGAGAGGGAGACGGGA...
ENST00000682308.1:c.1583-137_1583-136insGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGC	ENSP00000507056.1:n.1583-137_1583-136insGAGGGAGAGGGAGACGGGAGA...
ENST00000682480.1:c.1583-137_1583-136insGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGC	ENSP00000508344.1:n.1583-137_1583-136insGAGGGAGAGGGAGACGGGAGA...
ENST00000682546.1:c.1583-137_1583-136insGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGC	ENSP00000508188.1:n.1583-137_1583-136insGAGGGAGAGGGAGACGGGAGA...
ENST00000682585.1:c.1583-137_1583-136insGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGC	ENSP00000506885.1:n.1583-137_1583-136insGAGGGAGAGGGAGACGGGAGA...
ENST00000682595.1:n.2165-137_2165-136insGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGC
ENST00000682779.1:c.1574-137_1574-136insGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGC	ENSP00000507947.1:n.1574-137_1574-136insGAGGGAGAGGGAGACGGGAGA...
ENST00000682885.1:c.1583-137_1583-136insGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGC	ENSP00000508036.1:n.1583-137_1583-136insGAGGGAGAGGGAGACGGGAGA...
ENST00000682933.1:n.1520_1521insGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGC
ENST00000683072.1:n.2165-137_2165-136insGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGC
ENST00000683082.1:n.1601-137_1601-136insGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGC
ENST00000683125.1:c.1583-137_1583-136insGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGC	ENSP00000507939.1:n.1583-137_1583-136insGAGGGAGAGGGAGACGGGAGA...
ENST00000683213.1:c.1586-137_1586-136insGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGC	ENSP00000507751.1:n.1586-137_1586-136insGAGGGAGAGGGAGACGGGAGA...
ENST00000683220.1:c.1583-137_1583-136insGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGC	ENSP00000507151.1:n.1583-137_1583-136insGAGGGAGAGGGAGACGGGAGA...
ENST00000683329.1:n.2386-137_2386-136insGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGC
ENST00000683346.1:c.*1458-137_*1458-136insGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGC	ENSP00000507458.1:n.*1458-137_*1458-136insGAGGGAGAGGGAGACGGGA...
ENST00000683459.1:n.2170-137_2170-136insGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGC
ENST00000683590.1:c.1583-137_1583-136insGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGC	ENSP00000506820.1:n.1583-137_1583-136insGAGGGAGAGGGAGACGGGAGA...
ENST00000683623.1:c.1583-137_1583-136insGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGC	ENSP00000507702.1:n.1583-137_1583-136insGAGGGAGAGGGAGACGGGAGA...
ENST00000683645.1:n.1966_1967insGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGC
ENST00000683694.1:n.334-137_334-136insGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGC
ENST00000683796.1:c.*1455-137_*1455-136insGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGC	ENSP00000508221.1:n.*1455-137_*1455-136insGAGGGAGAGGGAGACGGGA...
ENST00000683802.1:n.4371_4372insGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGC
ENST00000683833.1:c.1574-137_1574-136insGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGC	ENSP00000506852.1:n.1574-137_1574-136insGAGGGAGAGGGAGACGGGAGA...
ENST00000683934.1:c.1469-137_1469-136insGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGC
ENST00000683989.1:c.1583-137_1583-136insGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGC	ENSP00000507510.1:n.1583-137_1583-136insGAGGGAGAGGGAGACGGGAGA...
ENST00000683994.1:c.1583-137_1583-136insGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGC	ENSP00000507181.1:n.1583-137_1583-136insGAGGGAGAGGGAGACGGGAGA...
ENST00000684290.1:c.1583-137_1583-136insGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGC	ENSP00000507243.1:n.1583-137_1583-136insGAGGGAGAGGGAGACGGGAGA...
ENST00000684306.1:c.*1496-137_*1496-136insGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGC	ENSP00000508384.1:n.*1496-137_*1496-136insGAGGGAGAGGGAGACGGGA...
ENST00000684341.1:n.1603-137_1603-136insGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGC
ENST00000684383.1:c.*1221-137_*1221-136insGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGC	ENSP00000506863.1:n.*1221-137_*1221-136insGAGGGAGAGGGAGACGGGA...
ENST00000684482.1:c.4052-137_4052-136insGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGC
ENST00000684619.1:c.*1455-137_*1455-136insGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGC	ENSP00000508088.1:n.*1455-137_*1455-136insGAGGGAGAGGGAGACGGGA...
ENST00000684743.1:n.2477_2478insGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGC
ENST00000260665.12:c.1583-137_1583-136insGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGC MANE Select	ENSP00000260665.7:n.1583-137_1583-136insGAGGGAGAGGGAGACGGGAGA...
ENST00000260665.11:c.1583-137_1583-136insGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGC	ENSP00000260665.7:n.1583-137_1583-136insGAGGGAGAGGGAGACGGGAGA...
ENST00000467058.1:n.312-137_312-136insGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGC
NM_133259.3:c.1583-137_1583-136insGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGC	NP_573566.2:n.1583-137_1583-136insGAGGGAGAGGGAGACGGGAGAGGGAGA...
XM_006711915.2:c.1505-137_1505-136insGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGC	XP_006711978.1:n.1505-137_1505-136insGAGGGAGAGGGAGACGGGAGAGGG...
XM_006711916.2:c.1583-137_1583-136insGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGC	XP_006711979.1:n.1583-137_1583-136insGAGGGAGAGGGAGACGGGAGAGGG...
XM_011532473.1:c.1583-137_1583-136insGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGC	XP_011530775.1:n.1583-137_1583-136insGAGGGAGAGGGAGACGGGAGAGGG...
XM_011532474.1:c.1583-137_1583-136insGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGC	XP_011530776.1:n.1583-137_1583-136insGAGGGAGAGGGAGACGGGAGAGGG...
XM_006711916.3:c.1583-137_1583-136insGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGC	XP_006711979.1:n.1583-137_1583-136insGAGGGAGAGGGAGACGGGAGAGGG...
XM_017003117.1:c.1505-137_1505-136insGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGC	XP_016858606.1:n.1505-137_1505-136insGAGGGAGAGGGAGACGGGAGAGGG...
XR_002958896.1:n.1625-137_1625-136insGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGC
NM_133259.4:c.1583-137_1583-136insGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGC MANE Select	NP_573566.2:n.1583-137_1583-136insGAGGGAGAGGGAGACGGGAGAGGGAGA...