Canonical Allele Identifier: CA2576954635

Gene: LRPPRC

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43957397_43957398del , CM000664.2:g.43957397_43957398del	GRCh38
NC_000002.11:g.44184536_44184537del , CM000664.1:g.44184536_44184537del	GRCh37
NC_000002.10:g.44038040_44038041del	NCBI36
NG_008247.1:g.43608_43609del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409659.6:c.1636_1637del	ENSP00000386562.2:p.Leu546ArgfsTer?
ENST00000447246.2:c.1636_1637del	ENSP00000403637.2:p.Leu546ArgfsTer?
ENST00000467058.2:n.365_366del
ENST00000681959.1:n.1250_1251del
ENST00000681961.1:n.1656_1657del
ENST00000682104.1:c.1510_1511del	ENSP00000507716.1:p.Leu504ArgfsTer?
ENST00000682303.1:c.*1508_*1509del	ENSP00000508325.1:n.*1508_*1509del
ENST00000682308.1:c.1636_1637del	ENSP00000507056.1:p.Leu546ArgfsTer?
ENST00000682480.1:c.1636_1637del	ENSP00000508344.1:p.Leu546ArgfsTer?
ENST00000682546.1:c.1636_1637del	ENSP00000508188.1:p.Leu546ArgfsTer?
ENST00000682585.1:c.1636_1637del	ENSP00000506885.1:p.Leu546ArgfsTer?
ENST00000682595.1:n.2218_2219del
ENST00000682607.1:c.54_55del
ENST00000682779.1:c.1627_1628del	ENSP00000507947.1:p.Leu543ArgfsTer?
ENST00000682885.1:c.1636_1637del	ENSP00000508036.1:p.Leu546ArgfsTer?
ENST00000682933.1:n.1710_1711del
ENST00000683072.1:n.2218_2219del
ENST00000683082.1:n.1654_1655del
ENST00000683125.1:c.1636_1637del	ENSP00000507939.1:p.Leu546ArgfsTer?
ENST00000683213.1:c.1639_1640del	ENSP00000507751.1:p.Leu547ArgfsTer?
ENST00000683220.1:c.1636_1637del	ENSP00000507151.1:p.Leu546ArgfsTer?
ENST00000683329.1:n.2439_2440del
ENST00000683346.1:c.*1511_*1512del	ENSP00000507458.1:n.*1511_*1512del
ENST00000683459.1:n.2223_2224del
ENST00000683590.1:c.1636_1637del	ENSP00000506820.1:p.Leu546ArgfsTer?
ENST00000683623.1:c.1636_1637del	ENSP00000507702.1:p.Leu546ArgfsTer?
ENST00000683645.1:n.2156_2157del
ENST00000683694.1:n.387_388del
ENST00000683796.1:c.*1508_*1509del	ENSP00000508221.1:n.*1508_*1509del
ENST00000683802.1:n.4561_4562del
ENST00000683833.1:c.1627_1628del	ENSP00000506852.1:p.Leu543ArgfsTer?
ENST00000683934.1:c.1522_1523del
ENST00000683989.1:c.1636_1637del	ENSP00000507510.1:p.Leu546ArgfsTer?
ENST00000683994.1:c.1636_1637del	ENSP00000507181.1:p.Leu546ArgfsTer?
ENST00000684290.1:c.1636_1637del	ENSP00000507243.1:p.Leu546ArgfsTer?
ENST00000684306.1:c.*1549_*1550del	ENSP00000508384.1:n.*1549_*1550del
ENST00000684341.1:n.1656_1657del
ENST00000684383.1:c.*1274_*1275del	ENSP00000506863.1:n.*1274_*1275del
ENST00000684482.1:c.4105_4106del
ENST00000684619.1:c.*1508_*1509del	ENSP00000508088.1:n.*1508_*1509del
ENST00000684743.1:n.2667_2668del
ENST00000260665.12:c.1636_1637del MANE Select	ENSP00000260665.7:p.Leu546ArgfsTer?
ENST00000260665.11:c.1636_1637del	ENSP00000260665.7:p.Leu546ArgfsTer?
ENST00000467058.1:n.365_366del
NM_133259.3:c.1636_1637del	NP_573566.2:p.Leu546ArgfsTer?
XM_006711915.2:c.1558_1559del	XP_006711978.1:p.Leu520ArgfsTer?
XM_006711916.2:c.1636_1637del	XP_006711979.1:p.Leu546ArgfsTer?
XM_011532473.1:c.1636_1637del	XP_011530775.1:p.Leu546ArgfsTer?
XM_011532474.1:c.1636_1637del	XP_011530776.1:p.Leu546ArgfsTer?
XM_006711916.3:c.1636_1637del	XP_006711979.1:p.Leu546ArgfsTer?
XM_017003117.1:c.1558_1559del	XP_016858606.1:p.Leu520ArgfsTer?
XR_002958896.1:n.1678_1679del
NM_133259.4:c.1636_1637del MANE Select	NP_573566.2:p.Leu546ArgfsTer?