Canonical Allele Identifier: CA2695224068

Gene: PRPF8

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650814del , CM000679.2:g.1650814del	GRCh38
NC_000017.10:g.1554108del , CM000679.1:g.1554108del	GRCh37
NC_000017.9:g.1500858del	NCBI36
NG_009118.1:g.39070del
NG_033061.1:g.4286del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6817del	ENSP00000460849.2:p.Leu2273CysfsTer26
ENST00000703537.1:c.2745del
ENST00000703538.1:c.*6720del	ENSP00000515361.1:n.*6720del
ENST00000703539.1:n.3311del
ENST00000703540.1:c.6850del	ENSP00000515362.1:p.Leu2284CysfsTer26
ENST00000703541.1:c.6862del	ENSP00000515363.1:p.Leu2288CysfsTer?
ENST00000304992.11:c.6997del MANE Select	ENSP00000304350.6:p.Leu2333CysfsTer26
ENST00000304992.10:c.6997del	ENSP00000304350.6:p.Leu2333CysfsTer26
ENST00000571958.1:c.196del
ENST00000572621.5:c.6997del	ENSP00000460348.1:p.Leu2333CysfsTer26
NM_006445.3:c.6997del	NP_006436.3:p.Leu2333CysfsTer26
XM_024450537.1:c.6997del	XP_024306305.1:p.Leu2333CysfsTer26
NM_006445.4:c.6997del MANE Select	NP_006436.3:p.Leu2333CysfsTer26