Canonical Allele Identifier: CA2658843068

Gene: LRPPRC

Linked Data

• gnomAD v4: 2-43960469-ACCAC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43960472_43960475del , CM000664.2:g.43960472_43960475del	GRCh38
NC_000002.11:g.44187611_44187614del , CM000664.1:g.44187611_44187614del	GRCh37
NC_000002.10:g.44041115_44041118del	NCBI36
NG_008247.1:g.40533_40536del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409659.6:c.1582+68_1582+71del	ENSP00000386562.2:n.1582+68_1582+71del
ENST00000409946.6:c.1582+68_1582+71del	ENSP00000386234.1:n.1582+68_1582+71del
ENST00000447246.2:c.1582+68_1582+71del	ENSP00000403637.2:n.1582+68_1582+71del
ENST00000467058.2:n.311+68_311+71del
ENST00000681959.1:n.1196+68_1196+71del
ENST00000681961.1:n.1602+68_1602+71del
ENST00000682104.1:c.1456+68_1456+71del	ENSP00000507716.1:n.1456+68_1456+71del
ENST00000682303.1:c.*1454+68_*1454+71del	ENSP00000508325.1:n.*1454+68_*1454+71del
ENST00000682308.1:c.1582+68_1582+71del	ENSP00000507056.1:n.1582+68_1582+71del
ENST00000682480.1:c.1582+68_1582+71del	ENSP00000508344.1:n.1582+68_1582+71del
ENST00000682546.1:c.1582+68_1582+71del	ENSP00000508188.1:n.1582+68_1582+71del
ENST00000682585.1:c.1582+68_1582+71del	ENSP00000506885.1:n.1582+68_1582+71del
ENST00000682595.1:n.2164+68_2164+71del
ENST00000682779.1:c.1573+68_1573+71del	ENSP00000507947.1:n.1573+68_1573+71del
ENST00000682885.1:c.1582+68_1582+71del	ENSP00000508036.1:n.1582+68_1582+71del
ENST00000683072.1:n.2164+68_2164+71del
ENST00000683082.1:n.1600+68_1600+71del
ENST00000683125.1:c.1582+68_1582+71del	ENSP00000507939.1:n.1582+68_1582+71del
ENST00000683213.1:c.1585+68_1585+71del	ENSP00000507751.1:n.1585+68_1585+71del
ENST00000683220.1:c.1582+68_1582+71del	ENSP00000507151.1:n.1582+68_1582+71del
ENST00000683329.1:n.2385+68_2385+71del
ENST00000683346.1:c.*1457+68_*1457+71del	ENSP00000507458.1:n.*1457+68_*1457+71del
ENST00000683459.1:n.2169+68_2169+71del
ENST00000683590.1:c.1582+68_1582+71del	ENSP00000506820.1:n.1582+68_1582+71del
ENST00000683623.1:c.1582+68_1582+71del	ENSP00000507702.1:n.1582+68_1582+71del
ENST00000683694.1:n.333+68_333+71del
ENST00000683796.1:c.*1454+68_*1454+71del	ENSP00000508221.1:n.*1454+68_*1454+71del
ENST00000683802.1:n.1486_1489del
ENST00000683833.1:c.1573+68_1573+71del	ENSP00000506852.1:n.1573+68_1573+71del
ENST00000683934.1:c.1236+68_1236+71del
ENST00000683989.1:c.1582+68_1582+71del	ENSP00000507510.1:n.1582+68_1582+71del
ENST00000683994.1:c.1582+68_1582+71del	ENSP00000507181.1:n.1582+68_1582+71del
ENST00000684290.1:c.1582+68_1582+71del	ENSP00000507243.1:n.1582+68_1582+71del
ENST00000684306.1:c.*1495+68_*1495+71del	ENSP00000508384.1:n.*1495+68_*1495+71del
ENST00000684341.1:n.1602+68_1602+71del
ENST00000684383.1:c.*1220+68_*1220+71del	ENSP00000506863.1:n.*1220+68_*1220+71del
ENST00000684482.1:c.1304_1307del
ENST00000684619.1:c.*1454+68_*1454+71del	ENSP00000508088.1:n.*1454+68_*1454+71del
ENST00000260665.12:c.1582+68_1582+71del MANE Select	ENSP00000260665.7:n.1582+68_1582+71del
ENST00000260665.11:c.1582+68_1582+71del	ENSP00000260665.7:n.1582+68_1582+71del
ENST00000409946.5:c.1582+68_1582+71del	ENSP00000386234.1:n.1582+68_1582+71del
ENST00000467058.1:n.311+68_311+71del
NM_133259.3:c.1582+68_1582+71del	NP_573566.2:n.1582+68_1582+71del
XM_006711915.2:c.1504+68_1504+71del	XP_006711978.1:n.1504+68_1504+71del
XM_006711916.2:c.1582+68_1582+71del	XP_006711979.1:n.1582+68_1582+71del
XM_011532473.1:c.1582+68_1582+71del	XP_011530775.1:n.1582+68_1582+71del
XM_011532474.1:c.1582+68_1582+71del	XP_011530776.1:n.1582+68_1582+71del
XM_006711916.3:c.1582+68_1582+71del	XP_006711979.1:n.1582+68_1582+71del
XM_017003117.1:c.1504+68_1504+71del	XP_016858606.1:n.1504+68_1504+71del
XR_002958896.1:n.1624+68_1624+71del
NM_133259.4:c.1582+68_1582+71del MANE Select	NP_573566.2:n.1582+68_1582+71del