Canonical Allele Identifier: CA2242976973

Gene: PRPF8

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650687_1650690delinsTCAA , CM000679.2:g.1650687_1650690delinsTCAA	GRCh38
NC_000017.10:g.1553981_1553984delinsTCAA , CM000679.1:g.1553981_1553984delinsTCAA	GRCh37
NC_000017.9:g.1500731_1500734delinsTCAA	NCBI36
NG_009118.1:g.39193_39196delinsTTGA
NG_033061.1:g.4409_4412delinsTTGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.*112_*115delinsTTGA	ENSP00000460849.2:n.*112_*115delinsTTGA
ENST00000703537.1:c.2868_2871delinsTTGA
ENST00000703538.1:c.*6843_*6846delinsTTGA	ENSP00000515361.1:n.*6843_*6846delinsTTGA
ENST00000703539.1:n.3434_3437delinsTTGA
ENST00000703540.1:c.*112_*115delinsTTGA	ENSP00000515362.1:n.*112_*115delinsTTGA
ENST00000304992.11:c.*112_*115delinsTTGA MANE Select	ENSP00000304350.6:n.*112_*115delinsTTGA
ENST00000304992.10:c.*112_*115delinsTTGA	ENSP00000304350.6:n.*112_*115delinsTTGA
ENST00000571958.1:c.319_322delinsTTGA
ENST00000572621.5:c.*112_*115delinsTTGA	ENSP00000460348.1:n.*112_*115delinsTTGA
NM_006445.3:c.*112_*115delinsTTGA	NP_006436.3:n.*112_*115delinsTTGA
XM_024450537.1:c.*112_*115delinsTTGA	XP_024306305.1:n.*112_*115delinsTTGA
NM_006445.4:c.*112_*115delinsTTGA MANE Select	NP_006436.3:n.*112_*115delinsTTGA