Canonical Allele Identifier: CA2808190835

Gene: PRPF8

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1651287_1651290del , CM000679.2:g.1651287_1651290del	GRCh38
NC_000017.10:g.1554581_1554584del , CM000679.1:g.1554581_1554584del	GRCh37
NC_000017.9:g.1501331_1501334del	NCBI36
NG_009118.1:g.38593_38596del
NG_033061.1:g.3809_3812del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6491_6494del	ENSP00000460849.2:p.Thr2164ArgfsTer6
ENST00000703537.1:c.2419_2422del
ENST00000703538.1:c.*6394_*6397del	ENSP00000515361.1:n.*6394_*6397del
ENST00000703539.1:n.2985_2988del
ENST00000703540.1:c.6524_6527del	ENSP00000515362.1:p.Thr2175ArgfsTer6
ENST00000703541.1:c.6536_6539del	ENSP00000515363.1:p.Thr2179ArgfsTer6
ENST00000304992.11:c.6671_6674del MANE Select	ENSP00000304350.6:p.Thr2224ArgfsTer6
ENST00000304992.10:c.6671_6674del	ENSP00000304350.6:p.Thr2224ArgfsTer6
ENST00000572621.5:c.6671_6674del	ENSP00000460348.1:p.Thr2224ArgfsTer6
ENST00000572723.1:n.660_663del
NM_006445.3:c.6671_6674del	NP_006436.3:p.Thr2224ArgfsTer6
XM_024450537.1:c.6671_6674del	XP_024306305.1:p.Thr2224ArgfsTer6
NM_006445.4:c.6671_6674del MANE Select	NP_006436.3:p.Thr2224ArgfsTer6