Canonical Allele Identifier: CA2763628676
Gene: PABPC4L HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.134200746_134200747insACACCCAAACACACCCAACACA , CM000666.2:g.134200746_134200747insACACCCAAACACACCCAACACA GRCh38
NC_000004.11:g.135121901_135121902insACACCCAAACACACCCAACACA , CM000666.1:g.135121901_135121902insACACCCAAACACACCCAACACA GRCh37
NC_000004.10:g.135341351_135341352insACACCCAAACACACCCAACACA NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000421491.4:c.274_275insGTGTTGGGTGTGTTTGGGTGTT MANE Select ENSP00000463233.1:p.Leu92CysfsTer27
ENST00000421491.3:c.274_275insGTGTTGGGTGTGTTTGGGTGTT ENSP00000463233.1:p.Leu92CysfsTer27
NM_001114734.1:c.448_449insGTGTTGGGTGTGTTTGGGTGTT NP_001108206.2:p.Leu150CysfsTer27
NM_001114734.2:c.274_275insGTGTTGGGTGTGTTTGGGTGTT MANE Select NP_001108206.3:p.Leu92CysfsTer27
NM_001363585.1:c.274_275insGTGTTGGGTGTGTTTGGGTGTT NP_001350514.1:p.Leu92CysfsTer27
XR_001741133.1:n.813_814insGTGTTGGGTGTGTTTGGGTGTT
XR_001741134.1:n.813_814insGTGTTGGGTGTGTTTGGGTGTT
XR_001741135.1:n.813_814insGTGTTGGGTGTGTTTGGGTGTT
XR_001741136.1:n.813_814insGTGTTGGGTGTGTTTGGGTGTT
XR_001741137.1:n.813_814insGTGTTGGGTGTGTTTGGGTGTT
XR_001741138.1:n.813_814insGTGTTGGGTGTGTTTGGGTGTT
XR_001741139.1:n.808_809insGTGTTGGGTGTGTTTGGGTGTT