Canonical Allele Identifier: CA2533389832

Gene: PRPF8

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650799del , CM000679.2:g.1650799del	GRCh38
NC_000017.10:g.1554093del , CM000679.1:g.1554093del	GRCh37
NC_000017.9:g.1500843del	NCBI36
NG_009118.1:g.39084del
NG_033061.1:g.4300del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.*3del	ENSP00000460849.2:n.*3del
ENST00000703537.1:c.2759del
ENST00000703538.1:c.*6734del	ENSP00000515361.1:n.*6734del
ENST00000703539.1:n.3325del
ENST00000703540.1:c.*3del	ENSP00000515362.1:n.*3del
ENST00000304992.11:c.*3del MANE Select	ENSP00000304350.6:n.*3del
ENST00000304992.10:c.*3del	ENSP00000304350.6:n.*3del
ENST00000571958.1:c.210del
ENST00000572621.5:c.*3del	ENSP00000460348.1:n.*3del
NM_006445.3:c.*3del	NP_006436.3:n.*3del
XM_024450537.1:c.*3del	XP_024306305.1:n.*3del
NM_006445.4:c.*3del MANE Select	NP_006436.3:n.*3del