Canonical Allele Identifier: CA1139665057

Gene: PRPF8

Linked Data

• ClinVar Variation Id: 949989
• ClinVar RCV Id: RCV001221596
• dbSNP Id: rs1910994795

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650821del , CM000679.2:g.1650821del	GRCh38
NC_000017.10:g.1554115del , CM000679.1:g.1554115del	GRCh37
NC_000017.9:g.1500865del	NCBI36
NG_009118.1:g.39064del
NG_033061.1:g.4280del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6811del	ENSP00000460849.2:p.Glu2271ArgfsTer28
ENST00000703537.1:c.2739del
ENST00000703538.1:c.*6714del	ENSP00000515361.1:n.*6714del
ENST00000703539.1:n.3305del
ENST00000703540.1:c.6844del	ENSP00000515362.1:p.Glu2282ArgfsTer28
ENST00000703541.1:c.6856del	ENSP00000515363.1:p.Glu2286ArgfsTer?
ENST00000304992.11:c.6991del MANE Select	ENSP00000304350.6:p.Glu2331ArgfsTer28
ENST00000304992.10:c.6991del	ENSP00000304350.6:p.Glu2331ArgfsTer28
ENST00000571958.1:c.190del
ENST00000572621.5:c.6991del	ENSP00000460348.1:p.Glu2331ArgfsTer28
NM_006445.3:c.6991del	NP_006436.3:p.Glu2331ArgfsTer28
XM_024450537.1:c.6991del	XP_024306305.1:p.Glu2331ArgfsTer28
NM_006445.4:c.6991del MANE Select	NP_006436.3:p.Glu2331ArgfsTer28