Canonical Allele Identifier: CA769069325

Gene: LRPPRC

Linked Data

• dbSNP Id: rs1191837884
• gnomAD v3: 2-43948040-GCAT-G
• gnomAD v4: 2-43948040-GCAT-G
• MyVariant Identifiers: chr2:g.44175180_44175182del (hg19) ; chr2:g.43948041_43948043del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43948044_43948046del , CM000664.2:g.43948044_43948046del	GRCh38
NC_000002.11:g.44175183_44175185del , CM000664.1:g.44175183_44175185del	GRCh37
NC_000002.10:g.44028687_44028689del	NCBI36
NG_008247.1:g.52963_52965del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409659.6:c.1920+79_1920+81del	ENSP00000386562.2:n.1920+79_1920+81del
ENST00000447246.2:c.1920+79_1920+81del	ENSP00000403637.2:n.1920+79_1920+81del
ENST00000681959.1:n.1534+79_1534+81del
ENST00000681961.1:n.1940+79_1940+81del
ENST00000682104.1:c.1794+79_1794+81del	ENSP00000507716.1:n.1794+79_1794+81del
ENST00000682303.1:c.*1792+79_*1792+81del	ENSP00000508325.1:n.*1792+79_*1792+81del
ENST00000682308.1:c.1920+79_1920+81del	ENSP00000507056.1:n.1920+79_1920+81del
ENST00000682480.1:c.1920+79_1920+81del	ENSP00000508344.1:n.1920+79_1920+81del
ENST00000682546.1:c.1917+79_1917+81del	ENSP00000508188.1:n.1917+79_1917+81del
ENST00000682585.1:c.1920+79_1920+81del	ENSP00000506885.1:n.1920+79_1920+81del
ENST00000682595.1:n.2502+79_2502+81del
ENST00000682607.1:c.338+79_338+81del
ENST00000682779.1:c.1911+79_1911+81del	ENSP00000507947.1:n.1911+79_1911+81del
ENST00000682885.1:c.1920+79_1920+81del	ENSP00000508036.1:n.1920+79_1920+81del
ENST00000682933.1:n.1994+79_1994+81del
ENST00000683072.1:n.2502+79_2502+81del
ENST00000683082.1:n.2017_2019del
ENST00000683125.1:c.1920+79_1920+81del	ENSP00000507939.1:n.1920+79_1920+81del
ENST00000683213.1:c.1923+79_1923+81del	ENSP00000507751.1:n.1923+79_1923+81del
ENST00000683220.1:c.1950+79_1950+81del	ENSP00000507151.1:n.1950+79_1950+81del
ENST00000683329.1:n.2723+79_2723+81del
ENST00000683346.1:c.*1795+79_*1795+81del	ENSP00000507458.1:n.*1795+79_*1795+81del
ENST00000683459.1:n.2507+79_2507+81del
ENST00000683590.1:c.1920+79_1920+81del	ENSP00000506820.1:n.1920+79_1920+81del
ENST00000683623.1:c.1920+79_1920+81del	ENSP00000507702.1:n.1920+79_1920+81del
ENST00000683645.1:n.2471+79_2471+81del
ENST00000683694.1:n.671+79_671+81del
ENST00000683796.1:c.*1792+79_*1792+81del	ENSP00000508221.1:n.*1792+79_*1792+81del
ENST00000683802.1:n.4845+79_4845+81del
ENST00000683833.1:c.1911+79_1911+81del	ENSP00000506852.1:n.1911+79_1911+81del
ENST00000683934.1:c.1806+79_1806+81del
ENST00000683989.1:c.1920+79_1920+81del	ENSP00000507510.1:n.1920+79_1920+81del
ENST00000683994.1:c.1920+79_1920+81del	ENSP00000507181.1:n.1920+79_1920+81del
ENST00000684290.1:c.1920+79_1920+81del	ENSP00000507243.1:n.1920+79_1920+81del
ENST00000684306.1:c.*1833+79_*1833+81del	ENSP00000508384.1:n.*1833+79_*1833+81del
ENST00000684341.1:n.1940+79_1940+81del
ENST00000684383.1:c.*1558+79_*1558+81del	ENSP00000506863.1:n.*1558+79_*1558+81del
ENST00000684482.1:c.4389+79_4389+81del
ENST00000684619.1:c.*1792+79_*1792+81del	ENSP00000508088.1:n.*1792+79_*1792+81del
ENST00000684743.1:n.2951+79_2951+81del
ENST00000260665.12:c.1920+79_1920+81del MANE Select	ENSP00000260665.7:n.1920+79_1920+81del
ENST00000260665.11:c.1920+79_1920+81del	ENSP00000260665.7:n.1920+79_1920+81del
NM_133259.3:c.1920+79_1920+81del	NP_573566.2:n.1920+79_1920+81del
XM_006711915.2:c.1842+79_1842+81del	XP_006711978.1:n.1842+79_1842+81del
XM_006711916.2:c.1920+79_1920+81del	XP_006711979.1:n.1920+79_1920+81del
XM_011532473.1:c.1920+79_1920+81del	XP_011530775.1:n.1920+79_1920+81del
XM_011532474.1:c.1920+79_1920+81del	XP_011530776.1:n.1920+79_1920+81del
XM_006711916.3:c.1920+79_1920+81del	XP_006711979.1:n.1920+79_1920+81del
XM_017003117.1:c.1842+79_1842+81del	XP_016858606.1:n.1842+79_1842+81del
XR_002958896.1:n.1962+79_1962+81del
NM_133259.4:c.1920+79_1920+81del MANE Select	NP_573566.2:n.1920+79_1920+81del