Canonical Allele Identifier: CA2242976964

Gene: PRPF8

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650680_1650683delinsCAGG , CM000679.2:g.1650680_1650683delinsCAGG	GRCh38
NC_000017.10:g.1553974_1553977delinsCAGG , CM000679.1:g.1553974_1553977delinsCAGG	GRCh37
NC_000017.9:g.1500724_1500727delinsCAGG	NCBI36
NG_009118.1:g.39200_39203delinsCCTG
NG_033061.1:g.4416_4419delinsCCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.*119_*122delinsCCTG	ENSP00000460849.2:n.*119_*122delinsCCTG
ENST00000703537.1:c.2875_2878delinsCCTG
ENST00000703538.1:c.*6850_*6853delinsCCTG	ENSP00000515361.1:n.*6850_*6853delinsCCTG
ENST00000703539.1:n.3441_3444delinsCCTG
ENST00000703540.1:c.*119_*122delinsCCTG	ENSP00000515362.1:n.*119_*122delinsCCTG
ENST00000304992.11:c.*119_*122delinsCCTG MANE Select	ENSP00000304350.6:n.*119_*122delinsCCTG
ENST00000304992.10:c.*119_*122delinsCCTG	ENSP00000304350.6:n.*119_*122delinsCCTG
ENST00000571958.1:c.326_329delinsCCTG
ENST00000572621.5:c.*119_*122delinsCCTG	ENSP00000460348.1:n.*119_*122delinsCCTG
NM_006445.3:c.*119_*122delinsCCTG	NP_006436.3:n.*119_*122delinsCCTG
XM_024450537.1:c.*119_*122delinsCCTG	XP_024306305.1:n.*119_*122delinsCCTG
NM_006445.4:c.*119_*122delinsCCTG MANE Select	NP_006436.3:n.*119_*122delinsCCTG