Canonical Allele Identifier: CA8270996

Gene: PRPF8

Linked Data

• dbSNP Id: rs745921541
• ExAC: 17:1553994 CACAG / C
• gnomAD v2: 17-1553994-CACAG-C
• gnomAD v3: 17-1650700-CACAG-C
• gnomAD v4: 17-1650700-CACAG-C
• MyVariant Identifiers: chr17:g.1553995_1553998del (hg19) ; chr17:g.1650701_1650704del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650706_1650709del , CM000679.2:g.1650706_1650709del	GRCh38
NC_000017.10:g.1554000_1554003del , CM000679.1:g.1554000_1554003del	GRCh37
NC_000017.9:g.1500750_1500753del	NCBI36
NG_009118.1:g.39179_39182del
NG_033061.1:g.4395_4398del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.*98_*101del	ENSP00000460849.2:n.*98_*101del
ENST00000703537.1:c.2854_2857del
ENST00000703538.1:c.*6829_*6832del	ENSP00000515361.1:n.*6829_*6832del
ENST00000703539.1:n.3420_3423del
ENST00000703540.1:c.*98_*101del	ENSP00000515362.1:n.*98_*101del
ENST00000304992.11:c.*98_*101del MANE Select	ENSP00000304350.6:n.*98_*101del
ENST00000304992.10:c.*98_*101del	ENSP00000304350.6:n.*98_*101del
ENST00000571958.1:c.305_308del
ENST00000572621.5:c.*98_*101del	ENSP00000460348.1:n.*98_*101del
NM_006445.3:c.*98_*101del	NP_006436.3:n.*98_*101del
XM_024450537.1:c.*98_*101del	XP_024306305.1:n.*98_*101del
NM_006445.4:c.*98_*101del MANE Select	NP_006436.3:n.*98_*101del