Canonical Allele Identifier: CA986412903

Linked Data

ClinVar Variation Id: 1929516
dbSNP Id: rs1009828411

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.76540532_76540541dup , CM000679.2:g.76540532_76540541dup GRCh38
NC_000017.10:g.74536614_74536623dup , CM000679.1:g.74536614_74536623dup GRCh37
NC_000017.9:g.72048209_72048218dup NCBI36
NG_016702.1:g.17947_17956dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000592014.6:c.102_111dup (PRCD) MANE Select ENSP00000467661.1:p.Ser38Ter
ENST00000397630.7:n.62_71dup (PRCD)
ENST00000397633.7:n.73_82dup (PRCD)
ENST00000465808.7:n.120_129dup (PRCD)
ENST00000586148.1:c.102_111dup (PRCD) ENSP00000465932.1:p.Ser38Ter
ENST00000589145.1:c.-52-8842_-52-8833dup (CYGB) ENSP00000468559.1:n.-52-8842_-52-8833dup
ENST00000590555.5:n.472_481dup (PRCD)
ENST00000592014.5:c.102_111dup (PRCD) ENSP00000467661.1:p.Ser38Ter
ENST00000592432.5:n.276_285dup (PRCD)
NM_001077620.2:c.102_111dup (PRCD) NP_001071088.1:p.Ser38Ter
NR_033357.1:n.276_285dup (PRCD)
XM_011524272.1:c.-52-8842_-52-8833dup (CYGB) XP_011522574.1:n.-52-8842_-52-8833dup
XM_011525184.1:c.225_234dup (PRCD) XP_011523486.1:p.Ser79Ter
XM_017024116.1:c.-52-8842_-52-8833dup (CYGB) XP_016879605.1:n.-52-8842_-52-8833dup
XM_017025013.1:c.102_111dup (PRCD) XP_016880502.1:p.Ser38Ter
XM_017025014.1:c.102_111dup (PRCD) XP_016880503.1:p.Ser38Ter
XM_017025015.1:c.102_111dup (PRCD) XP_016880504.1:p.Ser38Ter
NM_001077620.3:c.102_111dup (PRCD) MANE Select NP_001071088.1:p.Ser38Ter
NR_033357.2:n.276_285dup (PRCD)