Canonical Allele Identifier: CA16621698
Gene: PRPF8 HGNC NCBI

Linked Data

ClinVar Variation Id: 425117
dbSNP Id: rs1064797215

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.1650844dup , CM000679.2:g.1650844dup GRCh38
NC_000017.10:g.1554138dup , CM000679.1:g.1554138dup GRCh37
NC_000017.9:g.1500888dup NCBI36
NG_009118.1:g.39043dup
NG_033061.1:g.4259dup

Transcript Alleles

HGVS Amino-acid change
ENST00000573725.2:c.6790dup ENSP00000460849.2:p.Glu2264GlyfsTer?
ENST00000703537.1:c.2718dup
ENST00000703538.1:c.*6693dup ENSP00000515361.1:n.*6693dup
ENST00000703539.1:n.3284dup
ENST00000703540.1:c.6823dup ENSP00000515362.1:p.Glu2275GlyfsTer?
ENST00000703541.1:c.6835dup ENSP00000515363.1:p.Glu2279GlyfsTer?
ENST00000304992.11:c.6970dup MANE Select ENSP00000304350.6:p.Glu2324GlyfsTer?
ENST00000304992.10:c.6970dup ENSP00000304350.6:p.Glu2324GlyfsTer?
ENST00000571958.1:c.169dup
ENST00000572621.5:c.6970dup ENSP00000460348.1:p.Glu2324GlyfsTer?
NM_006445.3:c.6970dup NP_006436.3:p.Glu2324GlyfsTer?
XM_024450537.1:c.6970dup XP_024306305.1:p.Glu2324GlyfsTer?
NM_006445.4:c.6970dup MANE Select NP_006436.3:p.Glu2324GlyfsTer?