Canonical Allele Identifier: CA2493981109
Gene: LRPPRC HGNC NCBI

Linked Data

dbSNP Id: rs1671036758

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43905416_43905422del , CM000664.2:g.43905416_43905422del GRCh38
NC_000002.11:g.44132555_44132561del , CM000664.1:g.44132555_44132561del GRCh37
NC_000002.10:g.43986059_43986065del NCBI36
NG_008247.1:g.95586_95592del

Transcript Alleles

HGVS Amino-acid Change
ENST00000472420.6:n.443+272_443+278del
ENST00000681993.1:n.916+272_916+278del
ENST00000682303.1:c.*3150+272_*3150+278del ENSP00000508325.1:n.*3150+272_*3150+278del
ENST00000682308.1:c.3364+272_3364+278del ENSP00000507056.1:n.3364+272_3364+278del
ENST00000682480.1:c.3382+272_3382+278del ENSP00000508344.1:n.3382+272_3382+278del
ENST00000682546.1:c.3361+272_3361+278del ENSP00000508188.1:n.3361+272_3361+278del
ENST00000682585.1:c.3364+272_3364+278del ENSP00000506885.1:n.3364+272_3364+278del
ENST00000682595.1:n.3948+272_3948+278del
ENST00000682607.1:c.1782+272_1782+278del
ENST00000682612.1:c.216+272_216+278del
ENST00000682779.1:c.3355+272_3355+278del ENSP00000507947.1:n.3355+272_3355+278del
ENST00000682845.1:n.2466+272_2466+278del
ENST00000682885.1:c.3319+272_3319+278del ENSP00000508036.1:n.3319+272_3319+278del
ENST00000682933.1:n.3438+272_3438+278del
ENST00000683002.1:c.216+272_216+278del
ENST00000683072.1:n.3948+272_3948+278del
ENST00000683080.1:n.983+272_983+278del
ENST00000683125.1:c.3472+272_3472+278del ENSP00000507939.1:n.3472+272_3472+278del
ENST00000683213.1:c.3367+272_3367+278del ENSP00000507751.1:n.3367+272_3367+278del
ENST00000683220.1:c.3394+272_3394+278del ENSP00000507151.1:n.3394+272_3394+278del
ENST00000683329.1:n.4167+272_4167+278del
ENST00000683346.1:c.*3239+272_*3239+278del ENSP00000507458.1:n.*3239+272_*3239+278del
ENST00000683409.1:n.1971+272_1971+278del
ENST00000683459.1:n.3951+272_3951+278del
ENST00000683528.1:c.216+272_216+278del
ENST00000683590.1:c.3112+272_3112+278del ENSP00000506820.1:n.3112+272_3112+278del
ENST00000683623.1:c.3271+272_3271+278del ENSP00000507702.1:n.3271+272_3271+278del
ENST00000683645.1:n.3915+272_3915+278del
ENST00000683796.1:c.*3236+272_*3236+278del ENSP00000508221.1:n.*3236+272_*3236+278del
ENST00000683802.1:n.6289+272_6289+278del
ENST00000683833.1:c.3355+272_3355+278del ENSP00000506852.1:n.3355+272_3355+278del
ENST00000683994.1:c.3364+272_3364+278del ENSP00000507181.1:n.3364+272_3364+278del
ENST00000684290.1:c.*900+272_*900+278del ENSP00000507243.1:n.*900+272_*900+278del
ENST00000684306.1:c.*3277+272_*3277+278del ENSP00000508384.1:n.*3277+272_*3277+278del
ENST00000684341.1:n.3384+272_3384+278del
ENST00000684383.1:c.*3002+272_*3002+278del ENSP00000506863.1:n.*3002+272_*3002+278del
ENST00000684418.1:n.4545+272_4545+278del
ENST00000684454.1:n.2714+272_2714+278del
ENST00000684619.1:c.*3236+272_*3236+278del ENSP00000508088.1:n.*3236+272_*3236+278del
ENST00000684743.1:n.4395+272_4395+278del
ENST00000260665.12:c.3364+272_3364+278del MANE Select ENSP00000260665.7:n.3364+272_3364+278del
ENST00000260665.11:c.3364+272_3364+278del ENSP00000260665.7:n.3364+272_3364+278del
NM_133259.3:c.3364+272_3364+278del NP_573566.2:n.3364+272_3364+278del
XM_006711915.2:c.3286+272_3286+278del XP_006711978.1:n.3286+272_3286+278del
XM_011532473.1:c.3364+272_3364+278del XP_011530775.1:n.3364+272_3364+278del
XM_011532474.1:c.3364+272_3364+278del XP_011530776.1:n.3364+272_3364+278del
XM_017003117.1:c.3286+272_3286+278del XP_016858606.1:n.3286+272_3286+278del
XR_002958896.1:n.3406+272_3406+278del
NM_133259.4:c.3364+272_3364+278del MANE Select NP_573566.2:n.3364+272_3364+278del