Canonical Allele Identifier: CA2578196355

Gene: PABPC4L

Linked Data

• gnomAD v4: 4-134200859-GCATAGCCCA-G

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