Canonical Allele Identifier: CA2672091034
Gene: PABPC4L HGNC NCBI

Linked Data

gnomAD v4: 4-134200323-CA-C
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.134200326del , CM000666.2:g.134200326del GRCh38
NC_000004.11:g.135121481del , CM000666.1:g.135121481del GRCh37
NC_000004.10:g.135340931del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000421491.4:c.696del MANE Select ENSP00000463233.1:p.Phe232LeufsTer4
ENST00000421491.3:c.696del ENSP00000463233.1:p.Phe232LeufsTer4
NM_001114734.1:c.870del NP_001108206.2:p.Phe290LeufsTer4
NM_001114734.2:c.696del MANE Select NP_001108206.3:p.Phe232LeufsTer4
NM_001363585.1:c.696del NP_001350514.1:p.Phe232LeufsTer4
XR_001741133.1:n.1235del
XR_001741134.1:n.1235del
XR_001741135.1:n.1235del
XR_001741136.1:n.1235del
XR_001741137.1:n.1235del
XR_001741138.1:n.1235del
XR_001741139.1:n.1230del
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