Canonical Allele Identifier: CA2808190836

Gene: PRPF8

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1651302_1651305del , CM000679.2:g.1651302_1651305del	GRCh38
NC_000017.10:g.1554596_1554599del , CM000679.1:g.1554596_1554599del	GRCh37
NC_000017.9:g.1501346_1501349del	NCBI36
NG_009118.1:g.38578_38581del
NG_033061.1:g.3794_3797del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6476_6479del	ENSP00000460849.2:p.Thr2159LysfsTer6
ENST00000703537.1:c.2404_2407del
ENST00000703538.1:c.*6379_*6382del	ENSP00000515361.1:n.*6379_*6382del
ENST00000703539.1:n.2970_2973del
ENST00000703540.1:c.6509_6512del	ENSP00000515362.1:p.Thr2170LysfsTer6
ENST00000703541.1:c.6521_6524del	ENSP00000515363.1:p.Thr2174LysfsTer6
ENST00000304992.11:c.6656_6659del MANE Select	ENSP00000304350.6:p.Thr2219LysfsTer6
ENST00000304992.10:c.6656_6659del	ENSP00000304350.6:p.Thr2219LysfsTer6
ENST00000572621.5:c.6656_6659del	ENSP00000460348.1:p.Thr2219LysfsTer6
ENST00000572723.1:n.645_648del
NM_006445.3:c.6656_6659del	NP_006436.3:p.Thr2219LysfsTer6
XM_024450537.1:c.6656_6659del	XP_024306305.1:p.Thr2219LysfsTer6
NM_006445.4:c.6656_6659del MANE Select	NP_006436.3:p.Thr2219LysfsTer6