Canonical Allele Identifier: CA1030004555

Gene: LRPPRC

Linked Data

• gnomAD v3: 2-43957230-T-TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
• gnomAD v4: 2-43957230-T-TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43957234_43957235insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA , CM000664.2:g.43957234_43957235insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	GRCh38
NC_000002.11:g.44184373_44184374insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA , CM000664.1:g.44184373_44184374insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	GRCh37
NC_000002.10:g.44037877_44037878insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NCBI36
NG_008247.1:g.43775_43776insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409659.6:c.1649+154_1649+155insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000386562.2:n.1649+154_1649+155insTTTTTTTTTTTTTTTTTTTTT...
ENST00000447246.2:c.1649+154_1649+155insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000403637.2:n.1649+154_1649+155insTTTTTTTTTTTTTTTTTTTTT...
ENST00000467058.2:n.378+154_378+155insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
ENST00000681959.1:n.1263+154_1263+155insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
ENST00000681961.1:n.1669+154_1669+155insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
ENST00000682104.1:c.1523+154_1523+155insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000507716.1:n.1523+154_1523+155insTTTTTTTTTTTTTTTTTTTTT...
ENST00000682303.1:c.*1521+154_*1521+155insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000508325.1:n.*1521+154_*1521+155insTTTTTTTTTTTTTTTTTTT...
ENST00000682308.1:c.1649+154_1649+155insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000507056.1:n.1649+154_1649+155insTTTTTTTTTTTTTTTTTTTTT...
ENST00000682480.1:c.1649+154_1649+155insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000508344.1:n.1649+154_1649+155insTTTTTTTTTTTTTTTTTTTTT...
ENST00000682546.1:c.1649+154_1649+155insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000508188.1:n.1649+154_1649+155insTTTTTTTTTTTTTTTTTTTTT...
ENST00000682585.1:c.1649+154_1649+155insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000506885.1:n.1649+154_1649+155insTTTTTTTTTTTTTTTTTTTTT...
ENST00000682595.1:n.2231+154_2231+155insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
ENST00000682607.1:c.67+154_67+155insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
ENST00000682779.1:c.1640+154_1640+155insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000507947.1:n.1640+154_1640+155insTTTTTTTTTTTTTTTTTTTTT...
ENST00000682885.1:c.1649+154_1649+155insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000508036.1:n.1649+154_1649+155insTTTTTTTTTTTTTTTTTTTTT...
ENST00000682933.1:n.1723+154_1723+155insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
ENST00000683072.1:n.2231+154_2231+155insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
ENST00000683082.1:n.1667+154_1667+155insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
ENST00000683125.1:c.1649+154_1649+155insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000507939.1:n.1649+154_1649+155insTTTTTTTTTTTTTTTTTTTTT...
ENST00000683213.1:c.1652+154_1652+155insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000507751.1:n.1652+154_1652+155insTTTTTTTTTTTTTTTTTTTTT...
ENST00000683220.1:c.1649+154_1649+155insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000507151.1:n.1649+154_1649+155insTTTTTTTTTTTTTTTTTTTTT...
ENST00000683329.1:n.2452+154_2452+155insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
ENST00000683346.1:c.*1524+154_*1524+155insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000507458.1:n.*1524+154_*1524+155insTTTTTTTTTTTTTTTTTTT...
ENST00000683459.1:n.2236+154_2236+155insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
ENST00000683590.1:c.1649+154_1649+155insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000506820.1:n.1649+154_1649+155insTTTTTTTTTTTTTTTTTTTTT...
ENST00000683623.1:c.1649+154_1649+155insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000507702.1:n.1649+154_1649+155insTTTTTTTTTTTTTTTTTTTTT...
ENST00000683645.1:n.2169+154_2169+155insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
ENST00000683694.1:n.400+154_400+155insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
ENST00000683796.1:c.*1521+154_*1521+155insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000508221.1:n.*1521+154_*1521+155insTTTTTTTTTTTTTTTTTTT...
ENST00000683802.1:n.4574+154_4574+155insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
ENST00000683833.1:c.1640+154_1640+155insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000506852.1:n.1640+154_1640+155insTTTTTTTTTTTTTTTTTTTTT...
ENST00000683934.1:c.1535+154_1535+155insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
ENST00000683989.1:c.1649+154_1649+155insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000507510.1:n.1649+154_1649+155insTTTTTTTTTTTTTTTTTTTTT...
ENST00000683994.1:c.1649+154_1649+155insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000507181.1:n.1649+154_1649+155insTTTTTTTTTTTTTTTTTTTTT...
ENST00000684290.1:c.1649+154_1649+155insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000507243.1:n.1649+154_1649+155insTTTTTTTTTTTTTTTTTTTTT...
ENST00000684306.1:c.*1562+154_*1562+155insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000508384.1:n.*1562+154_*1562+155insTTTTTTTTTTTTTTTTTTT...
ENST00000684341.1:n.1669+154_1669+155insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
ENST00000684383.1:c.*1287+154_*1287+155insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000506863.1:n.*1287+154_*1287+155insTTTTTTTTTTTTTTTTTTT...
ENST00000684482.1:c.4118+154_4118+155insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
ENST00000684619.1:c.*1521+154_*1521+155insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000508088.1:n.*1521+154_*1521+155insTTTTTTTTTTTTTTTTTTT...
ENST00000684743.1:n.2680+154_2680+155insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
ENST00000260665.12:c.1649+154_1649+155insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT MANE Select	ENSP00000260665.7:n.1649+154_1649+155insTTTTTTTTTTTTTTTTTTTTT...
ENST00000260665.11:c.1649+154_1649+155insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000260665.7:n.1649+154_1649+155insTTTTTTTTTTTTTTTTTTTTT...
ENST00000467058.1:n.378+154_378+155insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
NM_133259.3:c.1649+154_1649+155insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NP_573566.2:n.1649+154_1649+155insTTTTTTTTTTTTTTTTTTTTTTTTTTT...
XM_006711915.2:c.1571+154_1571+155insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_006711978.1:n.1571+154_1571+155insTTTTTTTTTTTTTTTTTTTTTTTT...
XM_006711916.2:c.1649+154_1649+155insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_006711979.1:n.1649+154_1649+155insTTTTTTTTTTTTTTTTTTTTTTTT...
XM_011532473.1:c.1649+154_1649+155insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_011530775.1:n.1649+154_1649+155insTTTTTTTTTTTTTTTTTTTTTTTT...
XM_011532474.1:c.1649+154_1649+155insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_011530776.1:n.1649+154_1649+155insTTTTTTTTTTTTTTTTTTTTTTTT...
XM_006711916.3:c.1649+154_1649+155insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_006711979.1:n.1649+154_1649+155insTTTTTTTTTTTTTTTTTTTTTTTT...
XM_017003117.1:c.1571+154_1571+155insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_016858606.1:n.1571+154_1571+155insTTTTTTTTTTTTTTTTTTTTTTTT...
XR_002958896.1:n.1691+154_1691+155insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
NM_133259.4:c.1649+154_1649+155insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT MANE Select	NP_573566.2:n.1649+154_1649+155insTTTTTTTTTTTTTTTTTTTTTTTTTTT...