Canonical Allele Identifier: CA170080
Gene: PRPF4 HGNC NCBI

Linked Data

ClinVar Variation Id: 143058
ClinVar RCV Id: RCV000132565 RCV001849950 RCV002247512
dbSNP Id: rs541873609
gnomAD v2: 9-116037909-TTGTCAGTGACGCACTTCC-T
gnomAD v3: 9-113275629-TTGTCAGTGACGCACTTCC-T
gnomAD v4: 9-113275629-TTGTCAGTGACGCACTTCC-T
MyVariant Identifiers: chr9:g.116037910_116037927del (hg19) chr9:g.113275630_113275647del (hg38)
PubMed: PMID:24419317
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.113275648_113275665del , CM000671.2:g.113275648_113275665del GRCh38
NC_000009.11:g.116037928_116037945del , CM000671.1:g.116037928_116037945del GRCh37
NC_000009.10:g.115077749_115077766del NCBI36
NG_034225.1:g.5015_5032del

Transcript Alleles

HGVS Amino-acid Change
ENST00000374199.8:c.-96_-79del ENSP00000363315.3:n.-96_-79del
Search 100 bp 5'
Search 100 bp 3'