Canonical Allele Identifier: CA294200728

Linked Data

ClinVar Variation Id: 1427185
ClinVar RCV Id: RCV001933580
dbSNP Id: rs1009828411

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.76540532_76540541del , CM000679.2:g.76540532_76540541del GRCh38
NC_000017.10:g.74536614_74536623del , CM000679.1:g.74536614_74536623del GRCh37
NC_000017.9:g.72048209_72048218del NCBI36
NG_016702.1:g.17947_17956del

Transcript Alleles

HGVS Amino-acid Change
ENST00000592014.6:c.102_111del (PRCD) MANE Select ENSP00000467661.1:p.Arg35AlafsTer16
ENST00000397630.7:n.62_71del (PRCD)
ENST00000397633.7:n.73_82del (PRCD)
ENST00000465808.7:n.120_129del (PRCD)
ENST00000586148.1:c.102_111del (PRCD) ENSP00000465932.1:p.Arg35AlafsTer16
ENST00000589145.1:c.-52-8842_-52-8833del (CYGB) ENSP00000468559.1:n.-52-8842_-52-8833del
ENST00000590555.5:n.472_481del (PRCD)
ENST00000592014.5:c.102_111del (PRCD) ENSP00000467661.1:p.Arg35AlafsTer16
ENST00000592432.5:n.276_285del (PRCD)
NM_001077620.2:c.102_111del (PRCD) NP_001071088.1:p.Arg35AlafsTer16
NR_033357.1:n.276_285del (PRCD)
XM_011524272.1:c.-52-8842_-52-8833del (CYGB) XP_011522574.1:n.-52-8842_-52-8833del
XM_011525184.1:c.225_234del (PRCD) XP_011523486.1:p.Arg76AlafsTer16
XM_017024116.1:c.-52-8842_-52-8833del (CYGB) XP_016879605.1:n.-52-8842_-52-8833del
XM_017025013.1:c.102_111del (PRCD) XP_016880502.1:p.Arg35AlafsTer16
XM_017025014.1:c.102_111del (PRCD) XP_016880503.1:p.Arg35AlafsTer16
XM_017025015.1:c.102_111del (PRCD) XP_016880504.1:p.Arg35AlafsTer16
NM_001077620.3:c.102_111del (PRCD) MANE Select NP_001071088.1:p.Arg35AlafsTer16
NR_033357.2:n.276_285del (PRCD)