Canonical Allele Identifier: CA1029999748

Gene: LRPPRC

Linked Data

• dbSNP Id: rs1672758536
• gnomAD v3: 2-43948088-CATTTT-C
• gnomAD v4: 2-43948088-CATTTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43948091_43948095del , CM000664.2:g.43948091_43948095del	GRCh38
NC_000002.11:g.44175230_44175234del , CM000664.1:g.44175230_44175234del	GRCh37
NC_000002.10:g.44028734_44028738del	NCBI36
NG_008247.1:g.52913_52917del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409659.6:c.1920+29_1920+33del	ENSP00000386562.2:n.1920+29_1920+33del
ENST00000447246.2:c.1920+29_1920+33del	ENSP00000403637.2:n.1920+29_1920+33del
ENST00000681959.1:n.1534+29_1534+33del
ENST00000681961.1:n.1940+29_1940+33del
ENST00000682104.1:c.1794+29_1794+33del	ENSP00000507716.1:n.1794+29_1794+33del
ENST00000682303.1:c.*1792+29_*1792+33del	ENSP00000508325.1:n.*1792+29_*1792+33del
ENST00000682308.1:c.1920+29_1920+33del	ENSP00000507056.1:n.1920+29_1920+33del
ENST00000682480.1:c.1920+29_1920+33del	ENSP00000508344.1:n.1920+29_1920+33del
ENST00000682546.1:c.1917+29_1917+33del	ENSP00000508188.1:n.1917+29_1917+33del
ENST00000682585.1:c.1920+29_1920+33del	ENSP00000506885.1:n.1920+29_1920+33del
ENST00000682595.1:n.2502+29_2502+33del
ENST00000682607.1:c.338+29_338+33del
ENST00000682779.1:c.1911+29_1911+33del	ENSP00000507947.1:n.1911+29_1911+33del
ENST00000682885.1:c.1920+29_1920+33del	ENSP00000508036.1:n.1920+29_1920+33del
ENST00000682933.1:n.1994+29_1994+33del
ENST00000683072.1:n.2502+29_2502+33del
ENST00000683082.1:n.1967_1971del
ENST00000683125.1:c.1920+29_1920+33del	ENSP00000507939.1:n.1920+29_1920+33del
ENST00000683213.1:c.1923+29_1923+33del	ENSP00000507751.1:n.1923+29_1923+33del
ENST00000683220.1:c.1950+29_1950+33del	ENSP00000507151.1:n.1950+29_1950+33del
ENST00000683329.1:n.2723+29_2723+33del
ENST00000683346.1:c.*1795+29_*1795+33del	ENSP00000507458.1:n.*1795+29_*1795+33del
ENST00000683459.1:n.2507+29_2507+33del
ENST00000683590.1:c.1920+29_1920+33del	ENSP00000506820.1:n.1920+29_1920+33del
ENST00000683623.1:c.1920+29_1920+33del	ENSP00000507702.1:n.1920+29_1920+33del
ENST00000683645.1:n.2471+29_2471+33del
ENST00000683694.1:n.671+29_671+33del
ENST00000683796.1:c.*1792+29_*1792+33del	ENSP00000508221.1:n.*1792+29_*1792+33del
ENST00000683802.1:n.4845+29_4845+33del
ENST00000683833.1:c.1911+29_1911+33del	ENSP00000506852.1:n.1911+29_1911+33del
ENST00000683934.1:c.1806+29_1806+33del
ENST00000683989.1:c.1920+29_1920+33del	ENSP00000507510.1:n.1920+29_1920+33del
ENST00000683994.1:c.1920+29_1920+33del	ENSP00000507181.1:n.1920+29_1920+33del
ENST00000684290.1:c.1920+29_1920+33del	ENSP00000507243.1:n.1920+29_1920+33del
ENST00000684306.1:c.*1833+29_*1833+33del	ENSP00000508384.1:n.*1833+29_*1833+33del
ENST00000684341.1:n.1940+29_1940+33del
ENST00000684383.1:c.*1558+29_*1558+33del	ENSP00000506863.1:n.*1558+29_*1558+33del
ENST00000684482.1:c.4389+29_4389+33del
ENST00000684619.1:c.*1792+29_*1792+33del	ENSP00000508088.1:n.*1792+29_*1792+33del
ENST00000684743.1:n.2951+29_2951+33del
ENST00000260665.12:c.1920+29_1920+33del MANE Select	ENSP00000260665.7:n.1920+29_1920+33del
ENST00000260665.11:c.1920+29_1920+33del	ENSP00000260665.7:n.1920+29_1920+33del
NM_133259.3:c.1920+29_1920+33del	NP_573566.2:n.1920+29_1920+33del
XM_006711915.2:c.1842+29_1842+33del	XP_006711978.1:n.1842+29_1842+33del
XM_006711916.2:c.1920+29_1920+33del	XP_006711979.1:n.1920+29_1920+33del
XM_011532473.1:c.1920+29_1920+33del	XP_011530775.1:n.1920+29_1920+33del
XM_011532474.1:c.1920+29_1920+33del	XP_011530776.1:n.1920+29_1920+33del
XM_006711916.3:c.1920+29_1920+33del	XP_006711979.1:n.1920+29_1920+33del
XM_017003117.1:c.1842+29_1842+33del	XP_016858606.1:n.1842+29_1842+33del
XR_002958896.1:n.1962+29_1962+33del
NM_133259.4:c.1920+29_1920+33del MANE Select	NP_573566.2:n.1920+29_1920+33del