Canonical Allele Identifier: CA532288069

Gene: LRPPRC

Linked Data

• gnomAD v2: 2-44184414-ATGT-A
• gnomAD v3: 2-43957275-ATGT-A
• gnomAD v4: 2-43957275-ATGT-A
• MyVariant Identifiers: chr2:g.44184415_44184417del (hg19) ; chr2:g.43957276_43957278del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43957276_43957278del , CM000664.2:g.43957276_43957278del	GRCh38
NC_000002.11:g.44184415_44184417del , CM000664.1:g.44184415_44184417del	GRCh37
NC_000002.10:g.44037919_44037921del	NCBI36
NG_008247.1:g.43728_43730del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409659.6:c.1649+107_1649+109del	ENSP00000386562.2:n.1649+107_1649+109del
ENST00000447246.2:c.1649+107_1649+109del	ENSP00000403637.2:n.1649+107_1649+109del
ENST00000467058.2:n.378+107_378+109del
ENST00000681959.1:n.1263+107_1263+109del
ENST00000681961.1:n.1669+107_1669+109del
ENST00000682104.1:c.1523+107_1523+109del	ENSP00000507716.1:n.1523+107_1523+109del
ENST00000682303.1:c.*1521+107_*1521+109del	ENSP00000508325.1:n.*1521+107_*1521+109del
ENST00000682308.1:c.1649+107_1649+109del	ENSP00000507056.1:n.1649+107_1649+109del
ENST00000682480.1:c.1649+107_1649+109del	ENSP00000508344.1:n.1649+107_1649+109del
ENST00000682546.1:c.1649+107_1649+109del	ENSP00000508188.1:n.1649+107_1649+109del
ENST00000682585.1:c.1649+107_1649+109del	ENSP00000506885.1:n.1649+107_1649+109del
ENST00000682595.1:n.2231+107_2231+109del
ENST00000682607.1:c.67+107_67+109del
ENST00000682779.1:c.1640+107_1640+109del	ENSP00000507947.1:n.1640+107_1640+109del
ENST00000682885.1:c.1649+107_1649+109del	ENSP00000508036.1:n.1649+107_1649+109del
ENST00000682933.1:n.1723+107_1723+109del
ENST00000683072.1:n.2231+107_2231+109del
ENST00000683082.1:n.1667+107_1667+109del
ENST00000683125.1:c.1649+107_1649+109del	ENSP00000507939.1:n.1649+107_1649+109del
ENST00000683213.1:c.1652+107_1652+109del	ENSP00000507751.1:n.1652+107_1652+109del
ENST00000683220.1:c.1649+107_1649+109del	ENSP00000507151.1:n.1649+107_1649+109del
ENST00000683329.1:n.2452+107_2452+109del
ENST00000683346.1:c.*1524+107_*1524+109del	ENSP00000507458.1:n.*1524+107_*1524+109del
ENST00000683459.1:n.2236+107_2236+109del
ENST00000683590.1:c.1649+107_1649+109del	ENSP00000506820.1:n.1649+107_1649+109del
ENST00000683623.1:c.1649+107_1649+109del	ENSP00000507702.1:n.1649+107_1649+109del
ENST00000683645.1:n.2169+107_2169+109del
ENST00000683694.1:n.400+107_400+109del
ENST00000683796.1:c.*1521+107_*1521+109del	ENSP00000508221.1:n.*1521+107_*1521+109del
ENST00000683802.1:n.4574+107_4574+109del
ENST00000683833.1:c.1640+107_1640+109del	ENSP00000506852.1:n.1640+107_1640+109del
ENST00000683934.1:c.1535+107_1535+109del
ENST00000683989.1:c.1649+107_1649+109del	ENSP00000507510.1:n.1649+107_1649+109del
ENST00000683994.1:c.1649+107_1649+109del	ENSP00000507181.1:n.1649+107_1649+109del
ENST00000684290.1:c.1649+107_1649+109del	ENSP00000507243.1:n.1649+107_1649+109del
ENST00000684306.1:c.*1562+107_*1562+109del	ENSP00000508384.1:n.*1562+107_*1562+109del
ENST00000684341.1:n.1669+107_1669+109del
ENST00000684383.1:c.*1287+107_*1287+109del	ENSP00000506863.1:n.*1287+107_*1287+109del
ENST00000684482.1:c.4118+107_4118+109del
ENST00000684619.1:c.*1521+107_*1521+109del	ENSP00000508088.1:n.*1521+107_*1521+109del
ENST00000684743.1:n.2680+107_2680+109del
ENST00000260665.12:c.1649+107_1649+109del MANE Select	ENSP00000260665.7:n.1649+107_1649+109del
ENST00000260665.11:c.1649+107_1649+109del	ENSP00000260665.7:n.1649+107_1649+109del
ENST00000467058.1:n.378+107_378+109del
NM_133259.3:c.1649+107_1649+109del	NP_573566.2:n.1649+107_1649+109del
XM_006711915.2:c.1571+107_1571+109del	XP_006711978.1:n.1571+107_1571+109del
XM_006711916.2:c.1649+107_1649+109del	XP_006711979.1:n.1649+107_1649+109del
XM_011532473.1:c.1649+107_1649+109del	XP_011530775.1:n.1649+107_1649+109del
XM_011532474.1:c.1649+107_1649+109del	XP_011530776.1:n.1649+107_1649+109del
XM_006711916.3:c.1649+107_1649+109del	XP_006711979.1:n.1649+107_1649+109del
XM_017003117.1:c.1571+107_1571+109del	XP_016858606.1:n.1571+107_1571+109del
XR_002958896.1:n.1691+107_1691+109del
NM_133259.4:c.1649+107_1649+109del MANE Select	NP_573566.2:n.1649+107_1649+109del