Canonical Allele Identifier: CA2672091036
Gene: PABPC4L HGNC NCBI

Linked Data

gnomAD v4: 4-134200362-TA-T
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.134200364del , CM000666.2:g.134200364del GRCh38
NC_000004.11:g.135121519del , CM000666.1:g.135121519del GRCh37
NC_000004.10:g.135340969del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000421491.4:c.657del MANE Select ENSP00000463233.1:p.Lys220ArgfsTer2
ENST00000421491.3:c.657del ENSP00000463233.1:p.Lys220ArgfsTer2
NM_001114734.1:c.831del NP_001108206.2:p.Lys278ArgfsTer2
NM_001114734.2:c.657del MANE Select NP_001108206.3:p.Lys220ArgfsTer2
NM_001363585.1:c.657del NP_001350514.1:p.Lys220ArgfsTer2
XR_001741133.1:n.1196del
XR_001741134.1:n.1196del
XR_001741135.1:n.1196del
XR_001741136.1:n.1196del
XR_001741137.1:n.1196del
XR_001741138.1:n.1196del
XR_001741139.1:n.1191del
Search 100 bp 5'
Search 100 bp 3'