Canonical Allele Identifier: CA8270991

Gene: PRPF8

Linked Data

• dbSNP Id: rs779295261
• ExAC: 17:1553974 CAGG / C
• gnomAD v2: 17-1553974-CAGG-C
• gnomAD v4: 17-1650680-CAGG-C
• MyVariant Identifiers: chr17:g.1553975_1553977del (hg19) ; chr17:g.1650681_1650683del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650684_1650686del , CM000679.2:g.1650684_1650686del	GRCh38
NC_000017.10:g.1553978_1553980del , CM000679.1:g.1553978_1553980del	GRCh37
NC_000017.9:g.1500728_1500730del	NCBI36
NG_009118.1:g.39200_39202del
NG_033061.1:g.4416_4418del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.*119_*121del	ENSP00000460849.2:n.*119_*121del
ENST00000703537.1:c.2875_2877del
ENST00000703538.1:c.*6850_*6852del	ENSP00000515361.1:n.*6850_*6852del
ENST00000703539.1:n.3441_3443del
ENST00000703540.1:c.*119_*121del	ENSP00000515362.1:n.*119_*121del
ENST00000304992.11:c.*119_*121del MANE Select	ENSP00000304350.6:n.*119_*121del
ENST00000304992.10:c.*119_*121del	ENSP00000304350.6:n.*119_*121del
ENST00000571958.1:c.326_328del
ENST00000572621.5:c.*119_*121del	ENSP00000460348.1:n.*119_*121del
NM_006445.3:c.*119_*121del	NP_006436.3:n.*119_*121del
XM_024450537.1:c.*119_*121del	XP_024306305.1:n.*119_*121del
NM_006445.4:c.*119_*121del MANE Select	NP_006436.3:n.*119_*121del