Canonical Allele Identifier: CA2672091031

Gene: PABPC4L

Linked Data

• gnomAD v4: 4-134200314-TCA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.134200317_134200318del , CM000666.2:g.134200317_134200318del	GRCh38
NC_000004.11:g.135121472_135121473del , CM000666.1:g.135121472_135121473del	GRCh37
NC_000004.10:g.135340922_135340923del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000421491.4:c.704_705del MANE Select	ENSP00000463233.1:p.Val235GlufsTer3
ENST00000421491.3:c.704_705del	ENSP00000463233.1:p.Val235GlufsTer3
NM_001114734.1:c.878_879del	NP_001108206.2:p.Val293GlufsTer3
NM_001114734.2:c.704_705del MANE Select	NP_001108206.3:p.Val235GlufsTer3
NM_001363585.1:c.704_705del	NP_001350514.1:p.Val235GlufsTer3
XR_001741133.1:n.1243_1244del
XR_001741134.1:n.1243_1244del
XR_001741135.1:n.1243_1244del
XR_001741136.1:n.1243_1244del
XR_001741137.1:n.1243_1244del
XR_001741138.1:n.1243_1244del
XR_001741139.1:n.1238_1239del