Canonical Allele Identifier: CA2672091029

Gene: PABPC4L

Linked Data

• gnomAD v4: 4-134200301-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.134200303del , CM000666.2:g.134200303del	GRCh38
NC_000004.11:g.135121458del , CM000666.1:g.135121458del	GRCh37
NC_000004.10:g.135340908del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000421491.4:c.718del MANE Select	ENSP00000463233.1:p.His240MetfsTer11
ENST00000421491.3:c.718del	ENSP00000463233.1:p.His240MetfsTer11
NM_001114734.1:c.892del	NP_001108206.2:p.His298MetfsTer11
NM_001114734.2:c.718del MANE Select	NP_001108206.3:p.His240MetfsTer11
NM_001363585.1:c.718del	NP_001350514.1:p.His240MetfsTer11
XR_001741133.1:n.1257del
XR_001741134.1:n.1257del
XR_001741135.1:n.1257del
XR_001741136.1:n.1257del
XR_001741137.1:n.1257del
XR_001741138.1:n.1257del
XR_001741139.1:n.1252del