Canonical Allele Identifier: CA936880991
Gene: PRR5L HGNC NCBI

Linked Data

gnomAD v3: 11-36350153-TGTGGGTGTGTGGGAGGGTGGGTGTGTGTGTGGGAGGGTGGGTGGGTGTGAGTGTGTGTGGG-T
gnomAD v4: 11-36350153-TGTGGGTGTGTGGGAGGGTGGGTGTGTGTGTGGGAGGGTGGGTGGGTGTGAGTGTGTGTGGG-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.36350165_36350225del , CM000673.2:g.36350165_36350225del GRCh38
NC_000011.9:g.36371715_36371775del , CM000673.1:g.36371715_36371775del GRCh37
NC_000011.8:g.36328291_36328351del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000530639.6:c.-125-50832_-125-50772del MANE Select ENSP00000435050.1:n.-125-50832_-125-50772del
ENST00000527172.5:c.-291-43681_-291-43621del ENSP00000433708.1:n.-291-43681_-291-43621del
ENST00000529034.5:n.152-50832_152-50772del
ENST00000530639.5:c.-125-50832_-125-50772del ENSP00000435050.1:n.-125-50832_-125-50772del
ENST00000532121.5:c.-126+100_-126+160del ENSP00000433893.1:n.-126+100_-126+160del
NM_001160167.1:c.-125-50832_-125-50772del NP_001153639.1:n.-125-50832_-125-50772del
NM_001160167.2:c.-125-50832_-125-50772del MANE Select NP_001153639.1:n.-125-50832_-125-50772del
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