Canonical Allele Identifier: CA2635249017

Gene: PRPF8

Linked Data

• gnomAD v4: 17-1651147-TGAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1651152_1651154del , CM000679.2:g.1651152_1651154del	GRCh38
NC_000017.10:g.1554446_1554448del , CM000679.1:g.1554446_1554448del	GRCh37
NC_000017.9:g.1501196_1501198del	NCBI36
NG_009118.1:g.38733_38735del
NG_033061.1:g.3949_3951del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6631_6633del	ENSP00000460849.2:p.Phe2211del
ENST00000703537.1:c.2559_2561del
ENST00000703538.1:c.*6534_*6536del	ENSP00000515361.1:n.*6534_*6536del
ENST00000703539.1:n.3125_3127del
ENST00000703540.1:c.6664_6666del	ENSP00000515362.1:p.Phe2222del
ENST00000703541.1:c.6676_6678del	ENSP00000515363.1:p.Phe2226del
ENST00000304992.11:c.6811_6813del MANE Select	ENSP00000304350.6:p.Phe2271del
ENST00000304992.10:c.6811_6813del	ENSP00000304350.6:p.Phe2271del
ENST00000571958.1:c.120_122del
ENST00000572621.5:c.6811_6813del	ENSP00000460348.1:p.Phe2271del
ENST00000572723.1:n.800_802del
NM_006445.3:c.6811_6813del	NP_006436.3:p.Phe2271del
XM_024450537.1:c.6811_6813del	XP_024306305.1:p.Phe2271del
NM_006445.4:c.6811_6813del MANE Select	NP_006436.3:p.Phe2271del