Canonical Allele Identifier: CA2576113106

Gene: PRPF8

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650774del , CM000679.2:g.1650774del	GRCh38
NC_000017.10:g.1554068del , CM000679.1:g.1554068del	GRCh37
NC_000017.9:g.1500818del	NCBI36
NG_009118.1:g.39111del
NG_033061.1:g.4327del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.*30del	ENSP00000460849.2:n.*30del
ENST00000703537.1:c.2786del
ENST00000703538.1:c.*6761del	ENSP00000515361.1:n.*6761del
ENST00000703539.1:n.3352del
ENST00000703540.1:c.*30del	ENSP00000515362.1:n.*30del
ENST00000304992.11:c.*30del MANE Select	ENSP00000304350.6:n.*30del
ENST00000304992.10:c.*30del	ENSP00000304350.6:n.*30del
ENST00000571958.1:c.237del
ENST00000572621.5:c.*30del	ENSP00000460348.1:n.*30del
NM_006445.3:c.*30del	NP_006436.3:n.*30del
XM_024450537.1:c.*30del	XP_024306305.1:n.*30del
NM_006445.4:c.*30del MANE Select	NP_006436.3:n.*30del