Canonical Allele Identifier: CA2763628677
Gene: PABPC4L HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.134200847_134200849del , CM000666.2:g.134200847_134200849del GRCh38
NC_000004.11:g.135122002_135122004del , CM000666.1:g.135122002_135122004del GRCh37
NC_000004.10:g.135341452_135341454del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000421491.4:c.174_176del MANE Select ENSP00000463233.1:p.Phe58del
ENST00000421491.3:c.174_176del ENSP00000463233.1:p.Phe58del
NM_001114734.1:c.348_350del NP_001108206.2:p.Phe116del
NM_001114734.2:c.174_176del MANE Select NP_001108206.3:p.Phe58del
NM_001363585.1:c.174_176del NP_001350514.1:p.Phe58del
XR_001741133.1:n.713_715del
XR_001741134.1:n.713_715del
XR_001741135.1:n.713_715del
XR_001741136.1:n.713_715del
XR_001741137.1:n.713_715del
XR_001741138.1:n.713_715del
XR_001741139.1:n.708_710del
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