Canonical Allele Identifier: CA2672091045

Gene: PABPC4L

Linked Data

• gnomAD v4: 4-134200539-G-GTTTTCCATTCATC

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.134200541_134200553dup , CM000666.2:g.134200541_134200553dup	GRCh38
NC_000004.11:g.135121696_135121708dup , CM000666.1:g.135121696_135121708dup	GRCh37
NC_000004.10:g.135341146_135341158dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000421491.4:c.468_480dup MANE Select	ENSP00000463233.1:p.Leu161AspfsTer23
ENST00000421491.3:c.468_480dup	ENSP00000463233.1:p.Leu161AspfsTer23
NM_001114734.1:c.642_654dup	NP_001108206.2:p.Leu219AspfsTer23
NM_001114734.2:c.468_480dup MANE Select	NP_001108206.3:p.Leu161AspfsTer23
NM_001363585.1:c.468_480dup	NP_001350514.1:p.Leu161AspfsTer23
XR_001741133.1:n.1007_1019dup
XR_001741134.1:n.1007_1019dup
XR_001741135.1:n.1007_1019dup
XR_001741136.1:n.1007_1019dup
XR_001741137.1:n.1007_1019dup
XR_001741138.1:n.1007_1019dup
XR_001741139.1:n.1002_1014dup