Canonical Allele Identifier: CA1139665056

Gene: PRPF8

Linked Data

• ClinVar Variation Id: 916436
• ClinVar RCV Id: RCV001172106
• dbSNP Id: rs1910994325

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650822_1650842del , CM000679.2:g.1650822_1650842del	GRCh38
NC_000017.10:g.1554116_1554136del , CM000679.1:g.1554116_1554136del	GRCh37
NC_000017.9:g.1500866_1500886del	NCBI36
NG_009118.1:g.39047_39067del
NG_033061.1:g.4263_4283del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6794_6814del	ENSP00000460849.2:p.Val2265_Glu2271del
ENST00000703537.1:c.2722_2742del
ENST00000703538.1:c.*6697_*6717del	ENSP00000515361.1:n.*6697_*6717del
ENST00000703539.1:n.3288_3308del
ENST00000703540.1:c.6827_6847del	ENSP00000515362.1:p.Val2276_Glu2282del
ENST00000703541.1:c.6839_6859del	ENSP00000515363.1:p.Val2280_Glu2286del
ENST00000304992.11:c.6974_6994del MANE Select	ENSP00000304350.6:p.Val2325_Glu2331del
ENST00000304992.10:c.6974_6994del	ENSP00000304350.6:p.Val2325_Glu2331del
ENST00000571958.1:c.173_193del
ENST00000572621.5:c.6974_6994del	ENSP00000460348.1:p.Val2325_Glu2331del
NM_006445.3:c.6974_6994del	NP_006436.3:p.Val2325_Glu2331del
XM_024450537.1:c.6974_6994del	XP_024306305.1:p.Val2325_Glu2331del
NM_006445.4:c.6974_6994del MANE Select	NP_006436.3:p.Val2325_Glu2331del