Canonical Allele Identifier: CA8270981
Gene: PRPF8 HGNC NCBI

Linked Data

dbSNP Id: rs757726601
ExAC: 17:1553939 TTTA / T
gnomAD v2: 17-1553939-TTTA-T
gnomAD v3: 17-1650645-TTTA-T
gnomAD v4: 17-1650645-TTTA-T
MyVariant Identifiers: chr17:g.1553940_1553942del (hg19) chr17:g.1650646_1650648del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.1650653_1650655del , CM000679.2:g.1650653_1650655del GRCh38
NC_000017.10:g.1553947_1553949del , CM000679.1:g.1553947_1553949del GRCh37
NC_000017.9:g.1500697_1500699del NCBI36
NG_009118.1:g.39235_39237del
NG_033061.1:g.4451_4453del

Transcript Alleles

HGVS Amino-acid Change
ENST00000304992.11:c.*154_*156del MANE Select ENSP00000304350.6:n.*154_*156del
ENST00000304992.10:c.*154_*156del ENSP00000304350.6:n.*154_*156del
ENST00000571958.1:c.361_363del
ENST00000572621.5:c.*154_*156del ENSP00000460348.1:n.*154_*156del
NM_006445.3:c.*154_*156del NP_006436.3:n.*154_*156del
XM_024450537.1:c.*154_*156del XP_024306305.1:n.*154_*156del
NM_006445.4:c.*154_*156del MANE Select NP_006436.3:n.*154_*156del
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