Canonical Allele Identifier: CA2672091039
Gene: PABPC4L HGNC NCBI

Linked Data

gnomAD v4: 4-134200371-GA-G
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.134200372del , CM000666.2:g.134200372del GRCh38
NC_000004.11:g.135121527del , CM000666.1:g.135121527del GRCh37
NC_000004.10:g.135340977del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000421491.4:c.648del MANE Select ENSP00000463233.1:p.Leu217Ter
ENST00000421491.3:c.648del ENSP00000463233.1:p.Leu217Ter
NM_001114734.1:c.822del NP_001108206.2:p.Leu275Ter
NM_001114734.2:c.648del MANE Select NP_001108206.3:p.Leu217Ter
NM_001363585.1:c.648del NP_001350514.1:p.Leu217Ter
XR_001741133.1:n.1187del
XR_001741134.1:n.1187del
XR_001741135.1:n.1187del
XR_001741136.1:n.1187del
XR_001741137.1:n.1187del
XR_001741138.1:n.1187del
XR_001741139.1:n.1182del
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