Canonical Allele Identifier: CA2808190797

Gene: PRPF8

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650953_1650954insGT , CM000679.2:g.1650953_1650954insGT	GRCh38
NC_000017.10:g.1554247_1554248insGT , CM000679.1:g.1554247_1554248insGT	GRCh37
NC_000017.9:g.1500997_1500998insGT	NCBI36
NG_009118.1:g.38929_38930insAC
NG_033061.1:g.4145_4146insAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6676_6677insAC	ENSP00000460849.2:p.Val2226AspfsTer8
ENST00000703537.1:c.2604_2605insAC
ENST00000703538.1:c.*6579_*6580insAC	ENSP00000515361.1:n.*6579_*6580insAC
ENST00000703539.1:n.3170_3171insAC
ENST00000703540.1:c.6709_6710insAC	ENSP00000515362.1:p.Val2237AspfsTer8
ENST00000703541.1:c.6721_6722insAC	ENSP00000515363.1:p.Val2241AspfsTer8
ENST00000304992.11:c.6856_6857insAC MANE Select	ENSP00000304350.6:p.Val2286AspfsTer8
ENST00000304992.10:c.6856_6857insAC	ENSP00000304350.6:p.Val2286AspfsTer8
ENST00000571958.1:c.163-108_163-107insAC
ENST00000572621.5:c.6856_6857insAC	ENSP00000460348.1:p.Val2286AspfsTer8
ENST00000572723.1:n.845_846insAC
NM_006445.3:c.6856_6857insAC	NP_006436.3:p.Val2286AspfsTer8
XM_024450537.1:c.6856_6857insAC	XP_024306305.1:p.Val2286AspfsTer8
NM_006445.4:c.6856_6857insAC MANE Select	NP_006436.3:p.Val2286AspfsTer8