Canonical Allele Identifier: CA2808190784

Gene: PRPF8

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650644_1650663del , CM000679.2:g.1650644_1650663del	GRCh38
NC_000017.10:g.1553938_1553957del , CM000679.1:g.1553938_1553957del	GRCh37
NC_000017.9:g.1500688_1500707del	NCBI36
NG_009118.1:g.39220_39239del
NG_033061.1:g.4436_4455del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304992.11:c.*139_*158del MANE Select	ENSP00000304350.6:n.*139_*158del
ENST00000304992.10:c.*139_*158del	ENSP00000304350.6:n.*139_*158del
ENST00000571958.1:c.346_365del
ENST00000572621.5:c.*139_*158del	ENSP00000460348.1:n.*139_*158del
NM_006445.3:c.*139_*158del	NP_006436.3:n.*139_*158del
XM_024450537.1:c.*139_*158del	XP_024306305.1:n.*139_*158del
NM_006445.4:c.*139_*158del MANE Select	NP_006436.3:n.*139_*158del