Canonical Allele Identifier: CA2635248359

Gene: PRPF8

Linked Data

• gnomAD v4: 17-1650775-A-AG

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650777dup , CM000679.2:g.1650777dup	GRCh38
NC_000017.10:g.1554071dup , CM000679.1:g.1554071dup	GRCh37
NC_000017.9:g.1500821dup	NCBI36
NG_009118.1:g.39107dup
NG_033061.1:g.4323dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.*26dup	ENSP00000460849.2:n.*26dup
ENST00000703537.1:c.2782dup
ENST00000703538.1:c.*6757dup	ENSP00000515361.1:n.*6757dup
ENST00000703539.1:n.3348dup
ENST00000703540.1:c.*26dup	ENSP00000515362.1:n.*26dup
ENST00000304992.11:c.*26dup MANE Select	ENSP00000304350.6:n.*26dup
ENST00000304992.10:c.*26dup	ENSP00000304350.6:n.*26dup
ENST00000571958.1:c.233dup
ENST00000572621.5:c.*26dup	ENSP00000460348.1:n.*26dup
NM_006445.3:c.*26dup	NP_006436.3:n.*26dup
XM_024450537.1:c.*26dup	XP_024306305.1:n.*26dup
NM_006445.4:c.*26dup MANE Select	NP_006436.3:n.*26dup