Canonical Allele Identifier: CA2672091035

Gene: PABPC4L

Linked Data

• gnomAD v4: 4-134200352-G-GTCATCACCTTAACACTCAGAGTTTTGCCATATTTGCTGAAAACGTCCTTCAATCTC

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.134200359_134200414dup , CM000666.2:g.134200359_134200414dup	GRCh38
NC_000004.11:g.135121514_135121569dup , CM000666.1:g.135121514_135121569dup	GRCh37
NC_000004.10:g.135340964_135341019dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000421491.4:c.612_667dup MANE Select	ENSP00000463233.1:p.Thr223ArgfsTer3
ENST00000421491.3:c.612_667dup	ENSP00000463233.1:p.Thr223ArgfsTer3
NM_001114734.1:c.786_841dup	NP_001108206.2:p.Thr281ArgfsTer3
NM_001114734.2:c.612_667dup MANE Select	NP_001108206.3:p.Thr223ArgfsTer3
NM_001363585.1:c.612_667dup	NP_001350514.1:p.Thr223ArgfsTer3
XR_001741133.1:n.1151_1206dup
XR_001741134.1:n.1151_1206dup
XR_001741135.1:n.1151_1206dup
XR_001741136.1:n.1151_1206dup
XR_001741137.1:n.1151_1206dup
XR_001741138.1:n.1151_1206dup
XR_001741139.1:n.1146_1201dup