Canonical Allele Identifier: CA2739267036

Gene: PRPF8

Linked Data

• ClinVar Variation Id: 2838967
• ClinVar RCV Id: RCV003723247

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650863_1650864dup , CM000679.2:g.1650863_1650864dup	GRCh38
NC_000017.10:g.1554157_1554158dup , CM000679.1:g.1554157_1554158dup	GRCh37
NC_000017.9:g.1500907_1500908dup	NCBI36
NG_009118.1:g.39019_39020dup
NG_033061.1:g.4235_4236dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6766_6767dup	ENSP00000460849.2:p.Asn2256LysfsTer?
ENST00000703537.1:c.2694_2695dup
ENST00000703538.1:c.*6669_*6670dup	ENSP00000515361.1:n.*6669_*6670dup
ENST00000703539.1:n.3260_3261dup
ENST00000703540.1:c.6799_6800dup	ENSP00000515362.1:p.Asn2267LysfsTer?
ENST00000703541.1:c.6811_6812dup	ENSP00000515363.1:p.Asn2271LysfsTer?
ENST00000304992.11:c.6946_6947dup MANE Select	ENSP00000304350.6:p.Asn2316LysfsTer?
ENST00000304992.10:c.6946_6947dup	ENSP00000304350.6:p.Asn2316LysfsTer?
ENST00000571958.1:c.163-18_163-17dup
ENST00000572621.5:c.6946_6947dup	ENSP00000460348.1:p.Asn2316LysfsTer?
ENST00000572723.1:n.935_936dup
NM_006445.3:c.6946_6947dup	NP_006436.3:p.Asn2316LysfsTer?
XM_024450537.1:c.6946_6947dup	XP_024306305.1:p.Asn2316LysfsTer?
NM_006445.4:c.6946_6947dup MANE Select	NP_006436.3:p.Asn2316LysfsTer?