Canonical Allele Identifier: CA1139665055

Gene: PRPF8

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1683564del , CM000679.2:g.1683564del	GRCh38
NC_000017.10:g.1586858del , CM000679.1:g.1586858del	GRCh37
NC_000017.9:g.1533608del	NCBI36
NG_009118.1:g.6320del

Transcript Alleles

HGVS	Amino-acid Change
NM_006445.4:c.239del MANE Select	NP_006436.3:p.Lys80SerfsTer13
ENST00000304992.11:c.239del MANE Select	ENSP00000304350.6:p.Lys80SerfsTer13
NM_006445.3:c.239del	NP_006436.3:p.Lys80SerfsTer13
ENST00000304992.10:c.239del	ENSP00000304350.6:p.Lys80SerfsTer13
ENST00000571346.1:n.323del
ENST00000572621.5:c.239del	ENSP00000460348.1:p.Lys80SerfsTer13
ENST00000573725.2:c.239del	ENSP00000460849.2:p.Lys80SerfsTer13
ENST00000577001.1:c.239del	ENSP00000458151.1:p.Lys80SerfsTer16
ENST00000703538.1:c.100+909del	ENSP00000515361.1:n.100+909del
ENST00000703540.1:c.239del	ENSP00000515362.1:p.Lys80SerfsTer13
ENST00000703541.1:c.239del	ENSP00000515363.1:p.Lys80SerfsTer13
XM_024450537.1:c.239del	XP_024306305.1:p.Lys80SerfsTer13