Canonical Allele Identifier: CA2695224073

Gene: PRPF8

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650860_1650861del , CM000679.2:g.1650860_1650861del	GRCh38
NC_000017.10:g.1554154_1554155del , CM000679.1:g.1554154_1554155del	GRCh37
NC_000017.9:g.1500904_1500905del	NCBI36
NG_009118.1:g.39023_39024del
NG_033061.1:g.4239_4240del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6770_6771del	ENSP00000460849.2:p.Phe2257CysfsTer?
ENST00000703537.1:c.2698_2699del
ENST00000703538.1:c.*6673_*6674del	ENSP00000515361.1:n.*6673_*6674del
ENST00000703539.1:n.3264_3265del
ENST00000703540.1:c.6803_6804del	ENSP00000515362.1:p.Phe2268CysfsTer?
ENST00000703541.1:c.6815_6816del	ENSP00000515363.1:p.Phe2272CysfsTer?
ENST00000304992.11:c.6950_6951del MANE Select	ENSP00000304350.6:p.Phe2317CysfsTer?
ENST00000304992.10:c.6950_6951del	ENSP00000304350.6:p.Phe2317CysfsTer?
ENST00000571958.1:c.163-14_163-13del
ENST00000572621.5:c.6950_6951del	ENSP00000460348.1:p.Phe2317CysfsTer?
ENST00000572723.1:n.939_940del
NM_006445.3:c.6950_6951del	NP_006436.3:p.Phe2317CysfsTer?
XM_024450537.1:c.6950_6951del	XP_024306305.1:p.Phe2317CysfsTer?
NM_006445.4:c.6950_6951del MANE Select	NP_006436.3:p.Phe2317CysfsTer?