Canonical Allele Identifier: CA2672091058
Gene: PABPC4L HGNC NCBI

Linked Data

gnomAD v4: 4-134200876-GC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.134200877del , CM000666.2:g.134200877del GRCh38
NC_000004.11:g.135122032del , CM000666.1:g.135122032del GRCh37
NC_000004.10:g.135341482del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000421491.4:c.143del MANE Select ENSP00000463233.1:p.Arg48ProfsTer9
ENST00000421491.3:c.143del ENSP00000463233.1:p.Arg48ProfsTer9
NM_001114734.1:c.317del NP_001108206.2:p.Arg106ProfsTer9
NM_001114734.2:c.143del MANE Select NP_001108206.3:p.Arg48ProfsTer9
NM_001363585.1:c.143del NP_001350514.1:p.Arg48ProfsTer9
XR_001741133.1:n.682del
XR_001741134.1:n.682del
XR_001741135.1:n.682del
XR_001741136.1:n.682del
XR_001741137.1:n.682del
XR_001741138.1:n.682del
XR_001741139.1:n.677del
Search 100 bp 5'
Search 100 bp 3'