Canonical Allele Identifier: CA2739290884

Gene: PRPF8

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1651283_1651284insA , CM000679.2:g.1651283_1651284insA	GRCh38
NC_000017.10:g.1554577_1554578insA , CM000679.1:g.1554577_1554578insA	GRCh37
NC_000017.9:g.1501327_1501328insA	NCBI36
NG_009118.1:g.38599_38600insT
NG_033061.1:g.3815_3816insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6497_6498insT	ENSP00000460849.2:p.Ala2167GlyfsTer?
ENST00000703537.1:c.2425_2426insT
ENST00000703538.1:c.*6400_*6401insT	ENSP00000515361.1:n.*6400_*6401insT
ENST00000703539.1:n.2991_2992insT
ENST00000703540.1:c.6530_6531insT	ENSP00000515362.1:p.Ala2178GlyfsTer?
ENST00000703541.1:c.6542_6543insT	ENSP00000515363.1:p.Ala2182GlyfsTer?
ENST00000304992.11:c.6677_6678insT MANE Select	ENSP00000304350.6:p.Ala2227GlyfsTer?
ENST00000304992.10:c.6677_6678insT	ENSP00000304350.6:p.Ala2227GlyfsTer?
ENST00000572621.5:c.6677_6678insT	ENSP00000460348.1:p.Ala2227GlyfsTer?
ENST00000572723.1:n.666_667insT
NM_006445.3:c.6677_6678insT	NP_006436.3:p.Ala2227GlyfsTer?
XM_024450537.1:c.6677_6678insT	XP_024306305.1:p.Ala2227GlyfsTer?
NM_006445.4:c.6677_6678insT MANE Select	NP_006436.3:p.Ala2227GlyfsTer?