Canonical Allele Identifier: CA2695224069

Gene: PRPF8

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650829dup , CM000679.2:g.1650829dup	GRCh38
NC_000017.10:g.1554123dup , CM000679.1:g.1554123dup	GRCh37
NC_000017.9:g.1500873dup	NCBI36
NG_009118.1:g.39054dup
NG_033061.1:g.4270dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6801dup	ENSP00000460849.2:p.Ala2268CysfsTer?
ENST00000703537.1:c.2729dup
ENST00000703538.1:c.*6704dup	ENSP00000515361.1:n.*6704dup
ENST00000703539.1:n.3295dup
ENST00000703540.1:c.6834dup	ENSP00000515362.1:p.Ala2279CysfsTer?
ENST00000703541.1:c.6846dup	ENSP00000515363.1:p.Ala2283CysfsTer?
ENST00000304992.11:c.6981dup MANE Select	ENSP00000304350.6:p.Ala2328CysfsTer?
ENST00000304992.10:c.6981dup	ENSP00000304350.6:p.Ala2328CysfsTer?
ENST00000571958.1:c.180dup
ENST00000572621.5:c.6981dup	ENSP00000460348.1:p.Ala2328CysfsTer?
NM_006445.3:c.6981dup	NP_006436.3:p.Ala2328CysfsTer?
XM_024450537.1:c.6981dup	XP_024306305.1:p.Ala2328CysfsTer?
NM_006445.4:c.6981dup MANE Select	NP_006436.3:p.Ala2328CysfsTer?