Canonical Allele Identifier: CA2697556105

Gene: PRPF8

Linked Data

• ClinVar Variation Id: 2746009
• ClinVar RCV Id: RCV003568324

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650856_1650857dup , CM000679.2:g.1650856_1650857dup	GRCh38
NC_000017.10:g.1554150_1554151dup , CM000679.1:g.1554150_1554151dup	GRCh37
NC_000017.9:g.1500900_1500901dup	NCBI36
NG_009118.1:g.39029_39030dup
NG_033061.1:g.4245_4246dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000573725.2:c.6776_6777dup	ENSP00000460849.2:p.Leu2260SerfsTer?
ENST00000703537.1:c.2704_2705dup
ENST00000703538.1:c.*6679_*6680dup	ENSP00000515361.1:n.*6679_*6680dup
ENST00000703539.1:n.3270_3271dup
ENST00000703540.1:c.6809_6810dup	ENSP00000515362.1:p.Leu2271SerfsTer?
ENST00000703541.1:c.6821_6822dup	ENSP00000515363.1:p.Leu2275SerfsTer?
ENST00000304992.11:c.6956_6957dup MANE Select	ENSP00000304350.6:p.Leu2320SerfsTer?
ENST00000304992.10:c.6956_6957dup	ENSP00000304350.6:p.Leu2320SerfsTer?
ENST00000571958.1:c.163-8_163-7dup
ENST00000572621.5:c.6956_6957dup	ENSP00000460348.1:p.Leu2320SerfsTer?
ENST00000572723.1:n.945_946dup
NM_006445.3:c.6956_6957dup	NP_006436.3:p.Leu2320SerfsTer?
XM_024450537.1:c.6956_6957dup	XP_024306305.1:p.Leu2320SerfsTer?
NM_006445.4:c.6956_6957dup MANE Select	NP_006436.3:p.Leu2320SerfsTer?