Canonical Allele Identifier: CA2494004191

Gene: LRPPRC

Linked Data

• dbSNP Id: rs1672754663
• gnomAD v3: 2-43947975-GAACA-G
• gnomAD v4: 2-43947975-GAACA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43947977_43947980del , CM000664.2:g.43947977_43947980del	GRCh38
NC_000002.11:g.44175116_44175119del , CM000664.1:g.44175116_44175119del	GRCh37
NC_000002.10:g.44028620_44028623del	NCBI36
NG_008247.1:g.53027_53030del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409659.6:c.1920+143_1920+146del	ENSP00000386562.2:n.1920+143_1920+146del
ENST00000447246.2:c.1920+143_1920+146del	ENSP00000403637.2:n.1920+143_1920+146del
ENST00000681959.1:n.1534+143_1534+146del
ENST00000681961.1:n.1940+143_1940+146del
ENST00000682104.1:c.1794+143_1794+146del	ENSP00000507716.1:n.1794+143_1794+146del
ENST00000682303.1:c.*1792+143_*1792+146del	ENSP00000508325.1:n.*1792+143_*1792+146del
ENST00000682308.1:c.1920+143_1920+146del	ENSP00000507056.1:n.1920+143_1920+146del
ENST00000682480.1:c.1920+143_1920+146del	ENSP00000508344.1:n.1920+143_1920+146del
ENST00000682546.1:c.1917+143_1917+146del	ENSP00000508188.1:n.1917+143_1917+146del
ENST00000682585.1:c.1920+143_1920+146del	ENSP00000506885.1:n.1920+143_1920+146del
ENST00000682595.1:n.2502+143_2502+146del
ENST00000682607.1:c.338+143_338+146del
ENST00000682779.1:c.1911+143_1911+146del	ENSP00000507947.1:n.1911+143_1911+146del
ENST00000682885.1:c.1920+143_1920+146del	ENSP00000508036.1:n.1920+143_1920+146del
ENST00000682933.1:n.1994+143_1994+146del
ENST00000683072.1:n.2502+143_2502+146del
ENST00000683082.1:n.2081_2084del
ENST00000683125.1:c.1920+143_1920+146del	ENSP00000507939.1:n.1920+143_1920+146del
ENST00000683213.1:c.1923+143_1923+146del	ENSP00000507751.1:n.1923+143_1923+146del
ENST00000683220.1:c.1950+143_1950+146del	ENSP00000507151.1:n.1950+143_1950+146del
ENST00000683329.1:n.2723+143_2723+146del
ENST00000683346.1:c.*1795+143_*1795+146del	ENSP00000507458.1:n.*1795+143_*1795+146del
ENST00000683459.1:n.2507+143_2507+146del
ENST00000683590.1:c.1920+143_1920+146del	ENSP00000506820.1:n.1920+143_1920+146del
ENST00000683623.1:c.1920+143_1920+146del	ENSP00000507702.1:n.1920+143_1920+146del
ENST00000683645.1:n.2471+143_2471+146del
ENST00000683694.1:n.671+143_671+146del
ENST00000683796.1:c.*1792+143_*1792+146del	ENSP00000508221.1:n.*1792+143_*1792+146del
ENST00000683802.1:n.4845+143_4845+146del
ENST00000683833.1:c.1911+143_1911+146del	ENSP00000506852.1:n.1911+143_1911+146del
ENST00000683934.1:c.1806+143_1806+146del
ENST00000683989.1:c.1920+143_1920+146del	ENSP00000507510.1:n.1920+143_1920+146del
ENST00000683994.1:c.1920+143_1920+146del	ENSP00000507181.1:n.1920+143_1920+146del
ENST00000684290.1:c.1920+143_1920+146del	ENSP00000507243.1:n.1920+143_1920+146del
ENST00000684306.1:c.*1833+143_*1833+146del	ENSP00000508384.1:n.*1833+143_*1833+146del
ENST00000684341.1:n.1940+143_1940+146del
ENST00000684383.1:c.*1558+143_*1558+146del	ENSP00000506863.1:n.*1558+143_*1558+146del
ENST00000684482.1:c.4389+143_4389+146del
ENST00000684619.1:c.*1792+143_*1792+146del	ENSP00000508088.1:n.*1792+143_*1792+146del
ENST00000684743.1:n.2951+143_2951+146del
ENST00000260665.12:c.1920+143_1920+146del MANE Select	ENSP00000260665.7:n.1920+143_1920+146del
ENST00000260665.11:c.1920+143_1920+146del	ENSP00000260665.7:n.1920+143_1920+146del
NM_133259.3:c.1920+143_1920+146del	NP_573566.2:n.1920+143_1920+146del
XM_006711915.2:c.1842+143_1842+146del	XP_006711978.1:n.1842+143_1842+146del
XM_006711916.2:c.1920+143_1920+146del	XP_006711979.1:n.1920+143_1920+146del
XM_011532473.1:c.1920+143_1920+146del	XP_011530775.1:n.1920+143_1920+146del
XM_011532474.1:c.1920+143_1920+146del	XP_011530776.1:n.1920+143_1920+146del
XM_006711916.3:c.1920+143_1920+146del	XP_006711979.1:n.1920+143_1920+146del
XM_017003117.1:c.1842+143_1842+146del	XP_016858606.1:n.1842+143_1842+146del
XR_002958896.1:n.1962+143_1962+146del
NM_133259.4:c.1920+143_1920+146del MANE Select	NP_573566.2:n.1920+143_1920+146del