Canonical Allele Identifier: CA787526698
Gene: PABPC4L HGNC NCBI

Linked Data

dbSNP Id: rs1406589181
gnomAD v3: 4-134200874-CG-C
gnomAD v4: 4-134200874-CG-C
MyVariant Identifiers: chr4:g.135122030del (hg19) chr4:g.134200875del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.134200876del , CM000666.2:g.134200876del GRCh38
NC_000004.11:g.135122031del , CM000666.1:g.135122031del GRCh37
NC_000004.10:g.135341481del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000421491.4:c.145del MANE Select ENSP00000463233.1:p.Arg49AlafsTer8
ENST00000421491.3:c.145del ENSP00000463233.1:p.Arg49AlafsTer8
NM_001114734.1:c.319del NP_001108206.2:p.Arg107AlafsTer8
NM_001114734.2:c.145del MANE Select NP_001108206.3:p.Arg49AlafsTer8
NM_001363585.1:c.145del NP_001350514.1:p.Arg49AlafsTer8
XR_001741133.1:n.684del
XR_001741134.1:n.684del
XR_001741135.1:n.684del
XR_001741136.1:n.684del
XR_001741137.1:n.684del
XR_001741138.1:n.684del
XR_001741139.1:n.679del
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