Canonical Allele Identifier: CA2576113178

Gene: PRPF8

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1651269del , CM000679.2:g.1651269del	GRCh38
NC_000017.10:g.1554563del , CM000679.1:g.1554563del	GRCh37
NC_000017.9:g.1501313del	NCBI36
NG_009118.1:g.38618del
NG_033061.1:g.3834del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6516del	ENSP00000460849.2:p.Ser2173ValfsTer?
ENST00000703537.1:c.2444del
ENST00000703538.1:c.*6419del	ENSP00000515361.1:n.*6419del
ENST00000703539.1:n.3010del
ENST00000703540.1:c.6549del	ENSP00000515362.1:p.Ser2184ValfsTer?
ENST00000703541.1:c.6561del	ENSP00000515363.1:p.Ser2188ValfsTer?
ENST00000304992.11:c.6696del MANE Select	ENSP00000304350.6:p.Ser2233ValfsTer?
ENST00000304992.10:c.6696del	ENSP00000304350.6:p.Ser2233ValfsTer?
ENST00000571958.1:c.5del
ENST00000572621.5:c.6696del	ENSP00000460348.1:p.Ser2233ValfsTer?
ENST00000572723.1:n.685del
NM_006445.3:c.6696del	NP_006436.3:p.Ser2233ValfsTer?
XM_024450537.1:c.6696del	XP_024306305.1:p.Ser2233ValfsTer?
NM_006445.4:c.6696del MANE Select	NP_006436.3:p.Ser2233ValfsTer?