Canonical Allele Identifier: CA2548896204

Gene: PRPF8

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1651120del , CM000679.2:g.1651120del	GRCh38
NC_000017.10:g.1554414del , CM000679.1:g.1554414del	GRCh37
NC_000017.9:g.1501164del	NCBI36
NG_009118.1:g.38763del
NG_033061.1:g.3979del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6661del	ENSP00000460849.2:p.Tyr2221ThrfsTer12
ENST00000703537.1:c.2589del
ENST00000703538.1:c.*6564del	ENSP00000515361.1:n.*6564del
ENST00000703539.1:n.3155del
ENST00000703540.1:c.6694del	ENSP00000515362.1:p.Tyr2232ThrfsTer12
ENST00000703541.1:c.6706del	ENSP00000515363.1:p.Tyr2236ThrfsTer12
ENST00000304992.11:c.6841del MANE Select	ENSP00000304350.6:p.Tyr2281ThrfsTer12
ENST00000304992.10:c.6841del	ENSP00000304350.6:p.Tyr2281ThrfsTer12
ENST00000571958.1:c.150del
ENST00000572621.5:c.6841del	ENSP00000460348.1:p.Tyr2281ThrfsTer12
ENST00000572723.1:n.830del
NM_006445.3:c.6841del	NP_006436.3:p.Tyr2281ThrfsTer12
XM_024450537.1:c.6841del	XP_024306305.1:p.Tyr2281ThrfsTer12
NM_006445.4:c.6841del MANE Select	NP_006436.3:p.Tyr2281ThrfsTer12