Canonical Allele Identifier: CA784259977
Gene: PRRT3 HGNC NCBI
CRELD1 HGNC NCBI

Linked Data

dbSNP Id: rs1410802708

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.9940868_9940882del , CM000665.2:g.9940868_9940882del GRCh38
NC_000003.11:g.9982552_9982566del , CM000665.1:g.9982552_9982566del GRCh37
NC_000003.10:g.9957552_9957566del NCBI36
NG_017069.1:g.12028_12042del

Transcript Alleles

HGVS Amino-acid Change
ENST00000696835.1:c.*1127_*1141del ENSP00000512913.1:n.*1127_*1141del
ENST00000696836.1:c.*1127_*1141del ENSP00000512914.1:n.*1127_*1141del
ENST00000696837.1:c.*1956_*1970del ENSP00000512915.1:n.*1956_*1970del
ENST00000696838.1:c.*1127_*1141del ENSP00000512916.1:n.*1127_*1141del
ENST00000696839.1:c.*1127_*1141del ENSP00000512917.1:n.*1127_*1141del
ENST00000707135.1:n.1221-247_1221-233del (PRRT3)
ENST00000707136.1:n.1826-253_1826-239del (PRRT3)
ENST00000397170.8:c.479_493del (CRELD1) ENSP00000380355.4:p.Glu160_Gly164del
ENST00000414117.6:c.368_382del (CRELD1) ENSP00000411021.2:p.Glu123_Gly127del
ENST00000467713.6:n.585_599del (CRELD1)
ENST00000489674.6:n.55_69del (CRELD1)
ENST00000673635.2:c.*145_*159del (CRELD1) ENSP00000501186.2:n.*145_*159del
ENST00000673677.2:c.479_493del (CRELD1) ENSP00000500985.2:p.Glu160_Gly164del
ENST00000673737.2:c.479_493del (CRELD1) ENSP00000501208.1:p.Glu160_Gly164del
ENST00000673935.2:c.479_493del (CRELD1) ENSP00000500961.2:p.Glu160_Gly164del
ENST00000674067.2:c.*61_*75del (CRELD1) ENSP00000501009.2:n.*61_*75del
ENST00000681970.1:n.1145_1159del
ENST00000682120.1:n.581_595del (CRELD1)
ENST00000682122.1:c.*127_*141del ENSP00000507036.1:n.*127_*141del
ENST00000682200.1:c.387_401del (CRELD1) ENSP00000508321.1:p.Glu130_Trp134del
ENST00000682318.1:c.276_290del (CRELD1) ENSP00000507946.1:p.Glu93_Trp97del
ENST00000682397.1:c.276_290del (CRELD1) ENSP00000507177.1:p.Glu93_Trp97del
ENST00000682403.1:c.276_290del (CRELD1) ENSP00000507865.1:p.Glu93_Trp97del
ENST00000682570.1:c.479_493del (CRELD1) ENSP00000507973.1:p.Glu160_Gly164del
ENST00000682642.1:c.479_493del (CRELD1) ENSP00000507251.1:p.Glu160_Gly164del
ENST00000682771.1:c.479_493del (CRELD1) ENSP00000507114.1:p.Glu160_Gly164del
ENST00000682783.1:c.479_493del (CRELD1) ENSP00000508358.1:p.Glu160_Gly164del
ENST00000682790.1:c.*53_*67del (CRELD1) ENSP00000507904.1:n.*53_*67del
ENST00000682798.1:n.1084_1098del (CRELD1)
ENST00000682866.1:n.498_512del (CRELD1)
ENST00000682884.1:n.973_987del (CRELD1)
ENST00000682906.1:c.276_290del (CRELD1) ENSP00000507674.1:p.Glu93_Trp97del
ENST00000682907.1:c.479_493del (CRELD1) ENSP00000508209.1:p.Glu160_Gly164del
ENST00000682929.1:c.479_493del (CRELD1) ENSP00000507930.1:p.Glu160_Gly164del
ENST00000682967.1:n.664_678del (CRELD1)
ENST00000683061.1:n.2062_2076del
ENST00000683083.1:n.587_601del (CRELD1)
ENST00000683127.1:c.479_493del (CRELD1) ENSP00000506906.1:p.Glu160_Gly164del
ENST00000683189.1:c.479_493del (CRELD1) ENSP00000508018.1:p.Glu160_Gly164del
ENST00000683232.1:c.276_290del (CRELD1) ENSP00000506842.1:p.Glu93_Trp97del
ENST00000683239.1:n.609_623del (CRELD1)
ENST00000683279.1:n.558_572del (CRELD1)
ENST00000683301.1:c.276_290del (CRELD1) ENSP00000507718.1:p.Glu93_Trp97del
ENST00000683316.1:c.479_493del (CRELD1) ENSP00000507076.1:p.Glu160_Gly164del
ENST00000683388.1:n.2583_2597del (CRELD1)
ENST00000683467.1:n.701_715del (CRELD1)
ENST00000683484.1:c.*127_*141del ENSP00000507040.1:n.*127_*141del
ENST00000683547.1:c.479_493del (CRELD1) ENSP00000507258.1:p.Glu160_Gly164del
ENST00000683601.1:c.479_493del (CRELD1) ENSP00000507737.1:p.Glu160_Gly164del
ENST00000683603.1:c.479_493del (CRELD1) ENSP00000508016.1:p.Glu160_Gly164del
ENST00000683736.1:c.350-243_350-229del (CRELD1) ENSP00000507761.1:n.350-243_350-229del
ENST00000683835.1:c.479_493del (CRELD1) ENSP00000508148.1:p.Glu160_Gly164del
ENST00000683849.1:c.276_290del (CRELD1) ENSP00000506901.1:p.Glu93_Trp97del
ENST00000683888.1:n.1084_1098del (CRELD1)
ENST00000683891.1:c.387_401del (CRELD1) ENSP00000506972.1:p.Glu130_Trp134del
ENST00000683921.1:c.*533_*547del (CRELD1) ENSP00000507395.1:n.*533_*547del
ENST00000683970.1:c.479_493del (CRELD1) ENSP00000507906.1:p.Glu160_Gly164del
ENST00000683982.1:c.479_493del (CRELD1) ENSP00000507437.1:p.Glu160_Gly164del
ENST00000684181.1:c.479_493del (CRELD1) ENSP00000507522.1:p.Glu160_Gly164del
ENST00000684212.1:c.479_493del (CRELD1) ENSP00000507565.1:p.Glu160_Gly164del
ENST00000684243.1:c.*145_*159del (CRELD1) ENSP00000506959.1:n.*145_*159del
ENST00000684291.1:c.479_493del (CRELD1) ENSP00000506927.1:p.Glu160_Gly164del
ENST00000684318.1:c.479_493del (CRELD1) ENSP00000508180.1:p.Glu160_Gly164del
ENST00000684419.1:n.1061_1075del (CRELD1)
ENST00000684493.1:c.479_493del (CRELD1) ENSP00000507127.1:p.Glu160_Gly164del
ENST00000684526.1:c.387_401del (CRELD1) ENSP00000508163.1:p.Glu130_Trp134del
ENST00000684532.1:c.479_493del (CRELD1) ENSP00000508212.1:p.Glu160_Gly164del
ENST00000684601.1:c.479_493del (CRELD1) ENSP00000507886.1:p.Glu160_Gly164del
ENST00000684613.1:c.479_493del (CRELD1) ENSP00000508218.1:p.Glu160_Gly164del
ENST00000684629.1:c.276_290del (CRELD1) ENSP00000506879.1:p.Glu93_Trp97del
ENST00000684648.1:c.387_401del (CRELD1) ENSP00000507931.1:p.Glu130_Trp134del
ENST00000383811.8:c.479_493del (CRELD1) ENSP00000373322.3:p.Glu160_Gly164del
ENST00000452070.6:c.479_493del (CRELD1) MANE Select ENSP00000393643.2:p.Glu160_Gly164del
ENST00000673635.1:c.334_348del (CRELD1) ENSP00000501186.1:n.334_348del
ENST00000673677.1:c.749_763del ENSP00000500985.1:n.749_763del
ENST00000673737.1:c.479_493del (CRELD1) ENSP00000501208.1:p.Glu160_Gly164del
ENST00000673935.1:c.6_20del (CRELD1)
ENST00000674057.1:c.*145_*159del (CRELD1) ENSP00000501128.1:n.*145_*159del
ENST00000674067.1:c.244_258del ENSP00000501009.1:n.244_258del
ENST00000326434.9:c.479_493del (CRELD1) ENSP00000321856.5:p.Glu160_Gly164del
ENST00000383811.7:c.479_493del (CRELD1) ENSP00000373322.3:p.Glu160_Gly164del
ENST00000397170.7:c.479_493del (CRELD1) ENSP00000380355.3:p.Glu160_Gly164del
ENST00000414117.5:c.276_290del (CRELD1) ENSP00000411021.1:p.Glu93_Trp97del
ENST00000452070.5:c.479_493del (CRELD1) ENSP00000393643.1:p.Glu160_Gly164del
NM_001031717.3:c.479_493del (CRELD1) NP_001026887.1:p.Glu160_Gly164del
NM_001077415.2:c.479_493del (CRELD1) NP_001070883.1:p.Glu160_Gly164del
NM_015513.4:c.479_493del (CRELD1) NP_056328.2:p.Glu160_Gly164del
XM_011534108.1:c.479_493del (CRELD1) XP_011532410.1:p.Glu160_Gly164del
XR_002959584.1:n.563_577del (CRELD1)
NM_001031717.4:c.479_493del (CRELD1) NP_001026887.2:p.Glu160_Gly164del
NM_001077415.3:c.479_493del (CRELD1) MANE Select NP_001070883.2:p.Glu160_Gly164del
NM_001374316.1:c.479_493del (CRELD1) NP_001361245.1:p.Glu160_Gly164del
NM_001374317.1:c.479_493del (CRELD1) NP_001361246.1:p.Glu160_Gly164del
NM_001374318.1:c.479_493del (CRELD1) NP_001361247.1:p.Glu160_Gly164del
NM_001374319.1:c.479_493del (CRELD1) NP_001361248.1:p.Glu160_Gly164del
NM_001374320.1:c.479_493del (CRELD1) NP_001361249.1:p.Glu160_Gly164del
NM_015513.6:c.479_493del (CRELD1) NP_056328.3:p.Glu160_Gly164del
NR_164475.1:n.517_531del (CRELD1)
NR_164476.1:n.493_507del (CRELD1)
NR_164477.1:n.867_881del (CRELD1)