Canonical Allele Identifier: CA46462376

Gene: LRPPRC

Linked Data

• dbSNP Id: rs568894248
• gnomAD v2: 2-44175184-ATATT-A
• gnomAD v3: 2-43948045-ATATT-A
• gnomAD v4: 2-43948045-ATATT-A
• MyVariant Identifiers: chr2:g.44175185_44175188del (hg19) ; chr2:g.43948046_43948049del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43948048_43948051del , CM000664.2:g.43948048_43948051del	GRCh38
NC_000002.11:g.44175187_44175190del , CM000664.1:g.44175187_44175190del	GRCh37
NC_000002.10:g.44028691_44028694del	NCBI36
NG_008247.1:g.52957_52960del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409659.6:c.1920+73_1920+76del	ENSP00000386562.2:n.1920+73_1920+76del
ENST00000447246.2:c.1920+73_1920+76del	ENSP00000403637.2:n.1920+73_1920+76del
ENST00000681959.1:n.1534+73_1534+76del
ENST00000681961.1:n.1940+73_1940+76del
ENST00000682104.1:c.1794+73_1794+76del	ENSP00000507716.1:n.1794+73_1794+76del
ENST00000682303.1:c.*1792+73_*1792+76del	ENSP00000508325.1:n.*1792+73_*1792+76del
ENST00000682308.1:c.1920+73_1920+76del	ENSP00000507056.1:n.1920+73_1920+76del
ENST00000682480.1:c.1920+73_1920+76del	ENSP00000508344.1:n.1920+73_1920+76del
ENST00000682546.1:c.1917+73_1917+76del	ENSP00000508188.1:n.1917+73_1917+76del
ENST00000682585.1:c.1920+73_1920+76del	ENSP00000506885.1:n.1920+73_1920+76del
ENST00000682595.1:n.2502+73_2502+76del
ENST00000682607.1:c.338+73_338+76del
ENST00000682779.1:c.1911+73_1911+76del	ENSP00000507947.1:n.1911+73_1911+76del
ENST00000682885.1:c.1920+73_1920+76del	ENSP00000508036.1:n.1920+73_1920+76del
ENST00000682933.1:n.1994+73_1994+76del
ENST00000683072.1:n.2502+73_2502+76del
ENST00000683082.1:n.2011_2014del
ENST00000683125.1:c.1920+73_1920+76del	ENSP00000507939.1:n.1920+73_1920+76del
ENST00000683213.1:c.1923+73_1923+76del	ENSP00000507751.1:n.1923+73_1923+76del
ENST00000683220.1:c.1950+73_1950+76del	ENSP00000507151.1:n.1950+73_1950+76del
ENST00000683329.1:n.2723+73_2723+76del
ENST00000683346.1:c.*1795+73_*1795+76del	ENSP00000507458.1:n.*1795+73_*1795+76del
ENST00000683459.1:n.2507+73_2507+76del
ENST00000683590.1:c.1920+73_1920+76del	ENSP00000506820.1:n.1920+73_1920+76del
ENST00000683623.1:c.1920+73_1920+76del	ENSP00000507702.1:n.1920+73_1920+76del
ENST00000683645.1:n.2471+73_2471+76del
ENST00000683694.1:n.671+73_671+76del
ENST00000683796.1:c.*1792+73_*1792+76del	ENSP00000508221.1:n.*1792+73_*1792+76del
ENST00000683802.1:n.4845+73_4845+76del
ENST00000683833.1:c.1911+73_1911+76del	ENSP00000506852.1:n.1911+73_1911+76del
ENST00000683934.1:c.1806+73_1806+76del
ENST00000683989.1:c.1920+73_1920+76del	ENSP00000507510.1:n.1920+73_1920+76del
ENST00000683994.1:c.1920+73_1920+76del	ENSP00000507181.1:n.1920+73_1920+76del
ENST00000684290.1:c.1920+73_1920+76del	ENSP00000507243.1:n.1920+73_1920+76del
ENST00000684306.1:c.*1833+73_*1833+76del	ENSP00000508384.1:n.*1833+73_*1833+76del
ENST00000684341.1:n.1940+73_1940+76del
ENST00000684383.1:c.*1558+73_*1558+76del	ENSP00000506863.1:n.*1558+73_*1558+76del
ENST00000684482.1:c.4389+73_4389+76del
ENST00000684619.1:c.*1792+73_*1792+76del	ENSP00000508088.1:n.*1792+73_*1792+76del
ENST00000684743.1:n.2951+73_2951+76del
ENST00000260665.12:c.1920+73_1920+76del MANE Select	ENSP00000260665.7:n.1920+73_1920+76del
ENST00000260665.11:c.1920+73_1920+76del	ENSP00000260665.7:n.1920+73_1920+76del
NM_133259.3:c.1920+73_1920+76del	NP_573566.2:n.1920+73_1920+76del
XM_006711915.2:c.1842+73_1842+76del	XP_006711978.1:n.1842+73_1842+76del
XM_006711916.2:c.1920+73_1920+76del	XP_006711979.1:n.1920+73_1920+76del
XM_011532473.1:c.1920+73_1920+76del	XP_011530775.1:n.1920+73_1920+76del
XM_011532474.1:c.1920+73_1920+76del	XP_011530776.1:n.1920+73_1920+76del
XM_006711916.3:c.1920+73_1920+76del	XP_006711979.1:n.1920+73_1920+76del
XM_017003117.1:c.1842+73_1842+76del	XP_016858606.1:n.1842+73_1842+76del
XR_002958896.1:n.1962+73_1962+76del
NM_133259.4:c.1920+73_1920+76del MANE Select	NP_573566.2:n.1920+73_1920+76del