Canonical Allele Identifier: CA532288059

Gene: LRPPRC

Linked Data

• gnomAD v2: 2-44184380-ATT-A
• gnomAD v3: 2-43957241-ATT-A
• gnomAD v4: 2-43957241-ATT-A
• MyVariant Identifiers: chr2:g.44184381_44184382del (hg19) ; chr2:g.43957242_43957243del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43957242_43957243del , CM000664.2:g.43957242_43957243del	GRCh38
NC_000002.11:g.44184381_44184382del , CM000664.1:g.44184381_44184382del	GRCh37
NC_000002.10:g.44037885_44037886del	NCBI36
NG_008247.1:g.43763_43764del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409659.6:c.1649+142_1649+143del	ENSP00000386562.2:n.1649+142_1649+143del
ENST00000447246.2:c.1649+142_1649+143del	ENSP00000403637.2:n.1649+142_1649+143del
ENST00000467058.2:n.378+142_378+143del
ENST00000681959.1:n.1263+142_1263+143del
ENST00000681961.1:n.1669+142_1669+143del
ENST00000682104.1:c.1523+142_1523+143del	ENSP00000507716.1:n.1523+142_1523+143del
ENST00000682303.1:c.*1521+142_*1521+143del	ENSP00000508325.1:n.*1521+142_*1521+143del
ENST00000682308.1:c.1649+142_1649+143del	ENSP00000507056.1:n.1649+142_1649+143del
ENST00000682480.1:c.1649+142_1649+143del	ENSP00000508344.1:n.1649+142_1649+143del
ENST00000682546.1:c.1649+142_1649+143del	ENSP00000508188.1:n.1649+142_1649+143del
ENST00000682585.1:c.1649+142_1649+143del	ENSP00000506885.1:n.1649+142_1649+143del
ENST00000682595.1:n.2231+142_2231+143del
ENST00000682607.1:c.67+142_67+143del
ENST00000682779.1:c.1640+142_1640+143del	ENSP00000507947.1:n.1640+142_1640+143del
ENST00000682885.1:c.1649+142_1649+143del	ENSP00000508036.1:n.1649+142_1649+143del
ENST00000682933.1:n.1723+142_1723+143del
ENST00000683072.1:n.2231+142_2231+143del
ENST00000683082.1:n.1667+142_1667+143del
ENST00000683125.1:c.1649+142_1649+143del	ENSP00000507939.1:n.1649+142_1649+143del
ENST00000683213.1:c.1652+142_1652+143del	ENSP00000507751.1:n.1652+142_1652+143del
ENST00000683220.1:c.1649+142_1649+143del	ENSP00000507151.1:n.1649+142_1649+143del
ENST00000683329.1:n.2452+142_2452+143del
ENST00000683346.1:c.*1524+142_*1524+143del	ENSP00000507458.1:n.*1524+142_*1524+143del
ENST00000683459.1:n.2236+142_2236+143del
ENST00000683590.1:c.1649+142_1649+143del	ENSP00000506820.1:n.1649+142_1649+143del
ENST00000683623.1:c.1649+142_1649+143del	ENSP00000507702.1:n.1649+142_1649+143del
ENST00000683645.1:n.2169+142_2169+143del
ENST00000683694.1:n.400+142_400+143del
ENST00000683796.1:c.*1521+142_*1521+143del	ENSP00000508221.1:n.*1521+142_*1521+143del
ENST00000683802.1:n.4574+142_4574+143del
ENST00000683833.1:c.1640+142_1640+143del	ENSP00000506852.1:n.1640+142_1640+143del
ENST00000683934.1:c.1535+142_1535+143del
ENST00000683989.1:c.1649+142_1649+143del	ENSP00000507510.1:n.1649+142_1649+143del
ENST00000683994.1:c.1649+142_1649+143del	ENSP00000507181.1:n.1649+142_1649+143del
ENST00000684290.1:c.1649+142_1649+143del	ENSP00000507243.1:n.1649+142_1649+143del
ENST00000684306.1:c.*1562+142_*1562+143del	ENSP00000508384.1:n.*1562+142_*1562+143del
ENST00000684341.1:n.1669+142_1669+143del
ENST00000684383.1:c.*1287+142_*1287+143del	ENSP00000506863.1:n.*1287+142_*1287+143del
ENST00000684482.1:c.4118+142_4118+143del
ENST00000684619.1:c.*1521+142_*1521+143del	ENSP00000508088.1:n.*1521+142_*1521+143del
ENST00000684743.1:n.2680+142_2680+143del
ENST00000260665.12:c.1649+142_1649+143del MANE Select	ENSP00000260665.7:n.1649+142_1649+143del
ENST00000260665.11:c.1649+142_1649+143del	ENSP00000260665.7:n.1649+142_1649+143del
ENST00000467058.1:n.378+142_378+143del
NM_133259.3:c.1649+142_1649+143del	NP_573566.2:n.1649+142_1649+143del
XM_006711915.2:c.1571+142_1571+143del	XP_006711978.1:n.1571+142_1571+143del
XM_006711916.2:c.1649+142_1649+143del	XP_006711979.1:n.1649+142_1649+143del
XM_011532473.1:c.1649+142_1649+143del	XP_011530775.1:n.1649+142_1649+143del
XM_011532474.1:c.1649+142_1649+143del	XP_011530776.1:n.1649+142_1649+143del
XM_006711916.3:c.1649+142_1649+143del	XP_006711979.1:n.1649+142_1649+143del
XM_017003117.1:c.1571+142_1571+143del	XP_016858606.1:n.1571+142_1571+143del
XR_002958896.1:n.1691+142_1691+143del
NM_133259.4:c.1649+142_1649+143del MANE Select	NP_573566.2:n.1649+142_1649+143del