Canonical Allele Identifier: CA2695224074

Gene: PRPF8

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650868del , CM000679.2:g.1650868del	GRCh38
NC_000017.10:g.1554162del , CM000679.1:g.1554162del	GRCh37
NC_000017.9:g.1500912del	NCBI36
NG_009118.1:g.39016del
NG_033061.1:g.4232del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6763del	ENSP00000460849.2:p.Leu2255SerfsTer?
ENST00000703537.1:c.2691del
ENST00000703538.1:c.*6666del	ENSP00000515361.1:n.*6666del
ENST00000703539.1:n.3257del
ENST00000703540.1:c.6796del	ENSP00000515362.1:p.Leu2266SerfsTer?
ENST00000703541.1:c.6808del	ENSP00000515363.1:p.Leu2270SerfsTer?
ENST00000304992.11:c.6943del MANE Select	ENSP00000304350.6:p.Leu2315SerfsTer?
ENST00000304992.10:c.6943del	ENSP00000304350.6:p.Leu2315SerfsTer?
ENST00000571958.1:c.163-21del
ENST00000572621.5:c.6943del	ENSP00000460348.1:p.Leu2315SerfsTer?
ENST00000572723.1:n.932del
NM_006445.3:c.6943del	NP_006436.3:p.Leu2315SerfsTer?
XM_024450537.1:c.6943del	XP_024306305.1:p.Leu2315SerfsTer?
NM_006445.4:c.6943del MANE Select	NP_006436.3:p.Leu2315SerfsTer?