Canonical Allele Identifier: CA2635248238

Gene: PRPF8

Linked Data

• gnomAD v4: 17-1650706-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650707dup , CM000679.2:g.1650707dup	GRCh38
NC_000017.10:g.1554001dup , CM000679.1:g.1554001dup	GRCh37
NC_000017.9:g.1500751dup	NCBI36
NG_009118.1:g.39176dup
NG_033061.1:g.4392dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.*95dup	ENSP00000460849.2:n.*95dup
ENST00000703537.1:c.2851dup
ENST00000703538.1:c.*6826dup	ENSP00000515361.1:n.*6826dup
ENST00000703539.1:n.3417dup
ENST00000703540.1:c.*95dup	ENSP00000515362.1:n.*95dup
ENST00000304992.11:c.*95dup MANE Select	ENSP00000304350.6:n.*95dup
ENST00000304992.10:c.*95dup	ENSP00000304350.6:n.*95dup
ENST00000571958.1:c.302dup
ENST00000572621.5:c.*95dup	ENSP00000460348.1:n.*95dup
NM_006445.3:c.*95dup	NP_006436.3:n.*95dup
XM_024450537.1:c.*95dup	XP_024306305.1:n.*95dup
NM_006445.4:c.*95dup MANE Select	NP_006436.3:n.*95dup