Canonical Allele Identifier: CA16621697

Gene: PRPF8

Linked Data

• ClinVar Variation Id: 425116
• ClinVar RCV Id: RCV000488336
• dbSNP Id: rs1555550025
• MyVariant Identifiers: chr17:g.1554132dup (hg19) ; chr17:g.1650838dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650838dup , CM000679.2:g.1650838dup	GRCh38
NC_000017.10:g.1554132dup , CM000679.1:g.1554132dup	GRCh37
NC_000017.9:g.1500882dup	NCBI36
NG_009118.1:g.39046dup
NG_033061.1:g.4262dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6793dup	ENSP00000460849.2:p.Val2265GlyfsTer?
ENST00000703537.1:c.2721dup
ENST00000703538.1:c.*6696dup	ENSP00000515361.1:n.*6696dup
ENST00000703539.1:n.3287dup
ENST00000703540.1:c.6826dup	ENSP00000515362.1:p.Val2276GlyfsTer?
ENST00000703541.1:c.6838dup	ENSP00000515363.1:p.Val2280GlyfsTer?
ENST00000304992.11:c.6973dup MANE Select	ENSP00000304350.6:p.Val2325GlyfsTer?
ENST00000304992.10:c.6973dup	ENSP00000304350.6:p.Val2325GlyfsTer?
ENST00000571958.1:c.172dup
ENST00000572621.5:c.6973dup	ENSP00000460348.1:p.Val2325GlyfsTer?
NM_006445.3:c.6973dup	NP_006436.3:p.Val2325GlyfsTer?
XM_024450537.1:c.6973dup	XP_024306305.1:p.Val2325GlyfsTer?
NM_006445.4:c.6973dup MANE Select	NP_006436.3:p.Val2325GlyfsTer?