Canonical Allele Identifier: CA2242976996

Gene: PRPF8

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650706_1650708delinsCAG , CM000679.2:g.1650706_1650708delinsCAG	GRCh38
NC_000017.10:g.1554000_1554002delinsCAG , CM000679.1:g.1554000_1554002delinsCAG	GRCh37
NC_000017.9:g.1500750_1500752delinsCAG	NCBI36
NG_009118.1:g.39175_39177delinsCTG
NG_033061.1:g.4391_4393delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.*94_*96delinsCTG	ENSP00000460849.2:n.*94_*96delinsCTG
ENST00000703537.1:c.2850_2852delinsCTG
ENST00000703538.1:c.*6825_*6827delinsCTG	ENSP00000515361.1:n.*6825_*6827delinsCTG
ENST00000703539.1:n.3416_3418delinsCTG
ENST00000703540.1:c.*94_*96delinsCTG	ENSP00000515362.1:n.*94_*96delinsCTG
ENST00000304992.11:c.*94_*96delinsCTG MANE Select	ENSP00000304350.6:n.*94_*96delinsCTG
ENST00000304992.10:c.*94_*96delinsCTG	ENSP00000304350.6:n.*94_*96delinsCTG
ENST00000571958.1:c.301_303delinsCTG
ENST00000572621.5:c.*94_*96delinsCTG	ENSP00000460348.1:n.*94_*96delinsCTG
NM_006445.3:c.*94_*96delinsCTG	NP_006436.3:n.*94_*96delinsCTG
XM_024450537.1:c.*94_*96delinsCTG	XP_024306305.1:n.*94_*96delinsCTG
NM_006445.4:c.*94_*96delinsCTG MANE Select	NP_006436.3:n.*94_*96delinsCTG