Canonical Allele Identifier: CA2578196355
Gene: PABPC4L HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.134200860_134200868del , CM000666.2:g.134200860_134200868del GRCh38
NC_000004.11:g.135122015_135122023del , CM000666.1:g.135122015_135122023del GRCh37
NC_000004.10:g.135341465_135341473del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000421491.4:c.152_160del MANE Select ENSP00000463233.1:p.Leu51_Ala54delinsPro
ENST00000421491.3:c.152_160del ENSP00000463233.1:p.Leu51_Ala54delinsPro
NM_001114734.1:c.326_334del NP_001108206.2:p.Leu109_Ala112delinsPro
NM_001114734.2:c.152_160del MANE Select NP_001108206.3:p.Leu51_Ala54delinsPro
NM_001363585.1:c.152_160del NP_001350514.1:p.Leu51_Ala54delinsPro
XR_001741133.1:n.691_699del
XR_001741134.1:n.691_699del
XR_001741135.1:n.691_699del
XR_001741136.1:n.691_699del
XR_001741137.1:n.691_699del
XR_001741138.1:n.691_699del
XR_001741139.1:n.686_694del