Canonical Allele Identifier: CA787525614

Gene: PABPC4L

Linked Data

• dbSNP Id: rs1223025413
• gnomAD v3: 4-134200323-C-CA
• gnomAD v4: 4-134200323-C-CA
• MyVariant Identifiers: chr4:g.135121478_135121479insA (hg19) ; chr4:g.134200323_134200324insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.134200326dup , CM000666.2:g.134200326dup	GRCh38
NC_000004.11:g.135121481dup , CM000666.1:g.135121481dup	GRCh37
NC_000004.10:g.135340931dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000421491.4:c.696dup MANE Select	ENSP00000463233.1:p.Gly233TrpfsTer6
ENST00000421491.3:c.696dup	ENSP00000463233.1:p.Gly233TrpfsTer6
NM_001114734.1:c.870dup	NP_001108206.2:p.Gly291TrpfsTer6
NM_001114734.2:c.696dup MANE Select	NP_001108206.3:p.Gly233TrpfsTer6
NM_001363585.1:c.696dup	NP_001350514.1:p.Gly233TrpfsTer6
XR_001741133.1:n.1235dup
XR_001741134.1:n.1235dup
XR_001741135.1:n.1235dup
XR_001741136.1:n.1235dup
XR_001741137.1:n.1235dup
XR_001741138.1:n.1235dup
XR_001741139.1:n.1230dup