Canonical Allele Identifier: CA2543511980

Gene: PRPF8

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650803del , CM000679.2:g.1650803del	GRCh38
NC_000017.10:g.1554097del , CM000679.1:g.1554097del	GRCh37
NC_000017.9:g.1500847del	NCBI36
NG_009118.1:g.39080del
NG_033061.1:g.4296del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6827del	ENSP00000460849.2:p.Ter2276TyrextTer23
ENST00000703537.1:c.2755del
ENST00000703538.1:c.*6730del	ENSP00000515361.1:n.*6730del
ENST00000703539.1:n.3321del
ENST00000703540.1:c.6860del	ENSP00000515362.1:p.Ter2287TyrextTer23
ENST00000703541.1:c.6872del	ENSP00000515363.1:p.Ter2291=
ENST00000304992.11:c.7007del MANE Select	ENSP00000304350.6:p.Ter2336TyrextTer23
ENST00000304992.10:c.7007del	ENSP00000304350.6:p.Ter2336TyrextTer23
ENST00000571958.1:c.206del
ENST00000572621.5:c.7007del	ENSP00000460348.1:p.Ter2336TyrextTer23
NM_006445.3:c.7007del	NP_006436.3:p.Ter2336TyrextTer23
XM_024450537.1:c.7007del	XP_024306305.1:p.Ter2336TyrextTer23
NM_006445.4:c.7007del MANE Select	NP_006436.3:p.Ter2336TyrextTer23