Canonical Allele Identifier: CA2808190834

Gene: PRPF8

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1651269_1651270insAGTC , CM000679.2:g.1651269_1651270insAGTC	GRCh38
NC_000017.10:g.1554563_1554564insAGTC , CM000679.1:g.1554563_1554564insAGTC	GRCh37
NC_000017.9:g.1501313_1501314insAGTC	NCBI36
NG_009118.1:g.38613_38614insGACT
NG_033061.1:g.3829_3830insGACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6511_6512insGACT	ENSP00000460849.2:p.Thr2171ArgfsTer28
ENST00000703537.1:c.2439_2440insGACT
ENST00000703538.1:c.*6414_*6415insGACT	ENSP00000515361.1:n.*6414_*6415insGACT
ENST00000703539.1:n.3005_3006insGACT
ENST00000703540.1:c.6544_6545insGACT	ENSP00000515362.1:p.Thr2182ArgfsTer28
ENST00000703541.1:c.6556_6557insGACT	ENSP00000515363.1:p.Thr2186ArgfsTer28
ENST00000304992.11:c.6691_6692insGACT MANE Select	ENSP00000304350.6:p.Thr2231ArgfsTer28
ENST00000304992.10:c.6691_6692insGACT	ENSP00000304350.6:p.Thr2231ArgfsTer28
ENST00000572621.5:c.6691_6692insGACT	ENSP00000460348.1:p.Thr2231ArgfsTer28
ENST00000572723.1:n.680_681insGACT
NM_006445.3:c.6691_6692insGACT	NP_006436.3:p.Thr2231ArgfsTer28
XM_024450537.1:c.6691_6692insGACT	XP_024306305.1:p.Thr2231ArgfsTer28
NM_006445.4:c.6691_6692insGACT MANE Select	NP_006436.3:p.Thr2231ArgfsTer28