Canonical Allele Identifier: CA2808190800

Gene: PRPF8

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650989_1650990insAC , CM000679.2:g.1650989_1650990insAC	GRCh38
NC_000017.10:g.1554283_1554284insAC , CM000679.1:g.1554283_1554284insAC	GRCh37
NC_000017.9:g.1501033_1501034insAC	NCBI36
NG_009118.1:g.38893_38894insGT
NG_033061.1:g.4109_4110insGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6674-34_6674-33insGT	ENSP00000460849.2:n.6674-34_6674-33insGT
ENST00000703537.1:c.2602-34_2602-33insGT
ENST00000703538.1:c.*6577-34_*6577-33insGT	ENSP00000515361.1:n.*6577-34_*6577-33insGT
ENST00000703539.1:n.3168-34_3168-33insGT
ENST00000703540.1:c.6707-34_6707-33insGT	ENSP00000515362.1:n.6707-34_6707-33insGT
ENST00000703541.1:c.6719-34_6719-33insGT	ENSP00000515363.1:n.6719-34_6719-33insGT
ENST00000304992.11:c.6854-34_6854-33insGT MANE Select	ENSP00000304350.6:n.6854-34_6854-33insGT
ENST00000304992.10:c.6854-34_6854-33insGT	ENSP00000304350.6:n.6854-34_6854-33insGT
ENST00000571958.1:c.162+118_162+119insGT
ENST00000572621.5:c.6854-34_6854-33insGT	ENSP00000460348.1:n.6854-34_6854-33insGT
ENST00000572723.1:n.843-34_843-33insGT
NM_006445.3:c.6854-34_6854-33insGT	NP_006436.3:n.6854-34_6854-33insGT
XM_024450537.1:c.6854-34_6854-33insGT	XP_024306305.1:n.6854-34_6854-33insGT
NM_006445.4:c.6854-34_6854-33insGT MANE Select	NP_006436.3:n.6854-34_6854-33insGT