Canonical Allele Identifier: CA1495815209
Gene: PABPC4L HGNC NCBI

Linked Data

dbSNP Id: rs1729846328
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.134200882_134200889del , CM000666.2:g.134200882_134200889del GRCh38
NC_000004.11:g.135122037_135122044del , CM000666.1:g.135122037_135122044del GRCh37
NC_000004.10:g.135341487_135341494del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000421491.4:c.134_141del MANE Select ENSP00000463233.1:p.Gln45ProfsTer16
ENST00000421491.3:c.134_141del ENSP00000463233.1:p.Gln45ProfsTer16
NM_001114734.1:c.308_315del NP_001108206.2:p.Gln103ProfsTer16
NM_001114734.2:c.134_141del MANE Select NP_001108206.3:p.Gln45ProfsTer16
NM_001363585.1:c.134_141del NP_001350514.1:p.Gln45ProfsTer16
XR_001741133.1:n.673_680del
XR_001741134.1:n.673_680del
XR_001741135.1:n.673_680del
XR_001741136.1:n.673_680del
XR_001741137.1:n.673_680del
XR_001741138.1:n.673_680del
XR_001741139.1:n.668_675del
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