Canonical Allele Identifier: CA2242977524

Gene: PRPF8

Linked Data

• dbSNP Id: rs1911017153

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650994_1650996dup , CM000679.2:g.1650994_1650996dup	GRCh38
NC_000017.10:g.1554288_1554290dup , CM000679.1:g.1554288_1554290dup	GRCh37
NC_000017.9:g.1501038_1501040dup	NCBI36
NG_009118.1:g.38889_38891dup
NG_033061.1:g.4105_4107dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6674-38_6674-36dup	ENSP00000460849.2:n.6674-38_6674-36dup
ENST00000703537.1:c.2602-38_2602-36dup
ENST00000703538.1:c.*6577-38_*6577-36dup	ENSP00000515361.1:n.*6577-38_*6577-36dup
ENST00000703539.1:n.3168-38_3168-36dup
ENST00000703540.1:c.6707-38_6707-36dup	ENSP00000515362.1:n.6707-38_6707-36dup
ENST00000703541.1:c.6719-38_6719-36dup	ENSP00000515363.1:n.6719-38_6719-36dup
ENST00000304992.11:c.6854-38_6854-36dup MANE Select	ENSP00000304350.6:n.6854-38_6854-36dup
ENST00000304992.10:c.6854-38_6854-36dup	ENSP00000304350.6:n.6854-38_6854-36dup
ENST00000571958.1:c.162+114_162+116dup
ENST00000572621.5:c.6854-38_6854-36dup	ENSP00000460348.1:n.6854-38_6854-36dup
ENST00000572723.1:n.843-38_843-36dup
NM_006445.3:c.6854-38_6854-36dup	NP_006436.3:n.6854-38_6854-36dup
XM_024450537.1:c.6854-38_6854-36dup	XP_024306305.1:n.6854-38_6854-36dup
NM_006445.4:c.6854-38_6854-36dup MANE Select	NP_006436.3:n.6854-38_6854-36dup