Canonical Allele Identifier: CA2672091032
Gene: PABPC4L HGNC NCBI

Linked Data

gnomAD v4: 4-134200317-CA-C
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.134200320del , CM000666.2:g.134200320del GRCh38
NC_000004.11:g.135121475del , CM000666.1:g.135121475del GRCh37
NC_000004.10:g.135340925del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000421491.4:c.702del MANE Select ENSP00000463233.1:p.Phe234LeufsTer2
ENST00000421491.3:c.702del ENSP00000463233.1:p.Phe234LeufsTer2
NM_001114734.1:c.876del NP_001108206.2:p.Phe292LeufsTer2
NM_001114734.2:c.702del MANE Select NP_001108206.3:p.Phe234LeufsTer2
NM_001363585.1:c.702del NP_001350514.1:p.Phe234LeufsTer2
XR_001741133.1:n.1241del
XR_001741134.1:n.1241del
XR_001741135.1:n.1241del
XR_001741136.1:n.1241del
XR_001741137.1:n.1241del
XR_001741138.1:n.1241del
XR_001741139.1:n.1236del
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