Canonical Allele Identifier: CA2695224072

Gene: PRPF8

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6790del	ENSP00000460849.2:p.Glu2264ArgfsTer?
ENST00000703537.1:c.2718del
ENST00000703538.1:c.*6693del	ENSP00000515361.1:n.*6693del
ENST00000703539.1:n.3284del
ENST00000703540.1:c.6823del	ENSP00000515362.1:p.Glu2275ArgfsTer?
ENST00000703541.1:c.6835del	ENSP00000515363.1:p.Glu2279ArgfsTer?
ENST00000304992.11:c.6970del MANE Select	ENSP00000304350.6:p.Glu2324ArgfsTer?
ENST00000304992.10:c.6970del	ENSP00000304350.6:p.Glu2324ArgfsTer?
ENST00000571958.1:c.169del
ENST00000572621.5:c.6970del	ENSP00000460348.1:p.Glu2324ArgfsTer?
ENST00000572723.1:n.959del
NM_006445.3:c.6970del	NP_006436.3:p.Glu2324ArgfsTer?
XM_024450537.1:c.6970del	XP_024306305.1:p.Glu2324ArgfsTer?
NM_006445.4:c.6970del MANE Select	NP_006436.3:p.Glu2324ArgfsTer?