Canonical Allele Identifier: CA2580066483
Gene: LRPPRC HGNC NCBI

Linked Data

ClinVar Variation Id: 1723911
ClinVar RCV Id: RCV002306466

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43899264_43899266delinsA , CM000664.2:g.43899264_43899266delinsA GRCh38
NC_000002.11:g.44126403_44126405delinsA , CM000664.1:g.44126403_44126405delinsA GRCh37
NC_000002.10:g.43979907_43979909delinsA NCBI36
NG_008247.1:g.101740_101742delinsT

Transcript Alleles

HGVS Amino-acid Change
ENST00000419884.6:c.209_211delinsT
ENST00000472420.6:n.857_859delinsT
ENST00000483489.2:n.209_211delinsT
ENST00000681993.1:n.1330_1332delinsT
ENST00000682303.1:c.*3564_*3566delinsT ENSP00000508325.1:n.*3564_*3566delinsT
ENST00000682308.1:c.3778_3780delinsT ENSP00000507056.1:p.Gln1260SerfsTer9
ENST00000682434.1:n.1329_1331delinsT
ENST00000682480.1:c.3796_3798delinsT ENSP00000508344.1:p.Gln1266SerfsTer9
ENST00000682546.1:c.3775_3777delinsT ENSP00000508188.1:p.Gln1259SerfsTer9
ENST00000682585.1:c.3778_3780delinsT ENSP00000506885.1:p.Gln1260SerfsTer9
ENST00000682595.1:n.4362_4364delinsT
ENST00000682607.1:c.2196_2198delinsT
ENST00000682612.1:c.630_632delinsT
ENST00000682779.1:c.3769_3771delinsT ENSP00000507947.1:p.Gln1257SerfsTer9
ENST00000682845.1:n.2880_2882delinsT
ENST00000682885.1:c.3733_3735delinsT ENSP00000508036.1:p.Gln1245SerfsTer9
ENST00000682933.1:n.3852_3854delinsT
ENST00000683002.1:c.630_632delinsT
ENST00000683072.1:n.4362_4364delinsT
ENST00000683080.1:n.1397_1399delinsT
ENST00000683125.1:c.3886_3888delinsT ENSP00000507939.1:p.Gln1296SerfsTer9
ENST00000683213.1:c.3781_3783delinsT ENSP00000507751.1:p.Gln1261SerfsTer9
ENST00000683220.1:c.3808_3810delinsT ENSP00000507151.1:p.Gln1270SerfsTer9
ENST00000683329.1:n.4581_4583delinsT
ENST00000683346.1:c.*3653_*3655delinsT ENSP00000507458.1:n.*3653_*3655delinsT
ENST00000683409.1:n.2385_2387delinsT
ENST00000683459.1:n.4365_4367delinsT
ENST00000683528.1:c.706_708delinsT
ENST00000683590.1:c.3526_3528delinsT ENSP00000506820.1:p.Gln1176SerfsTer9
ENST00000683623.1:c.3685_3687delinsT ENSP00000507702.1:p.Gln1229SerfsTer9
ENST00000683645.1:n.4329_4331delinsT
ENST00000683796.1:c.*3650_*3652delinsT ENSP00000508221.1:n.*3650_*3652delinsT
ENST00000683802.1:n.6703_6705delinsT
ENST00000683833.1:c.3769_3771delinsT ENSP00000506852.1:p.Gln1257SerfsTer9
ENST00000683994.1:c.3778_3780delinsT ENSP00000507181.1:p.Gln1260SerfsTer9
ENST00000684290.1:c.*1314_*1316delinsT ENSP00000507243.1:n.*1314_*1316delinsT
ENST00000684306.1:c.*3691_*3693delinsT ENSP00000508384.1:n.*3691_*3693delinsT
ENST00000684341.1:n.3798_3800delinsT
ENST00000684383.1:c.*3416_*3418delinsT ENSP00000506863.1:n.*3416_*3418delinsT
ENST00000684418.1:n.4959_4961delinsT
ENST00000684433.1:n.162_164delinsT
ENST00000684454.1:n.3128_3130delinsT
ENST00000684619.1:c.*3650_*3652delinsT ENSP00000508088.1:n.*3650_*3652delinsT
ENST00000684743.1:n.6523_6525delinsT
ENST00000260665.12:c.3778_3780delinsT MANE Select ENSP00000260665.7:p.Gln1260SerfsTer9
ENST00000260665.11:c.3778_3780delinsT ENSP00000260665.7:p.Gln1260SerfsTer9
ENST00000419884.5:c.19_21delinsT ENSP00000414207.1:p.Gln7SerfsTer9
ENST00000463456.5:n.2821_2823delinsT
ENST00000472420.5:n.175_177delinsT
ENST00000483489.1:n.252_254delinsT
NM_133259.3:c.3778_3780delinsT NP_573566.2:p.Gln1260SerfsTer9
XM_006711915.2:c.3700_3702delinsT XP_006711978.1:p.Gln1234SerfsTer9
XM_011532473.1:c.3778_3780delinsT XP_011530775.1:p.Gln1260SerfsTer9
XM_011532474.1:c.3778_3780delinsT XP_011530776.1:p.Gln1260SerfsTer9
XM_017003117.1:c.3700_3702delinsT XP_016858606.1:p.Gln1234SerfsTer9
XR_002958896.1:n.3820_3822delinsT
NM_133259.4:c.3778_3780delinsT MANE Select NP_573566.2:p.Gln1260SerfsTer9