Canonical Allele Identifier: CA106325837

Gene: PABPC4L

Linked Data

• dbSNP Id: rs746101643
• gnomAD v4: 4-134200792-TATG-T
• MyVariant Identifiers: chr4:g.135121948_135121950del (hg19) ; chr4:g.134200793_134200795del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.134200796_134200798del , CM000666.2:g.134200796_134200798del	GRCh38
NC_000004.11:g.135121951_135121953del , CM000666.1:g.135121951_135121953del	GRCh37
NC_000004.10:g.135341401_135341403del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000421491.4:c.225_227del MANE Select	ENSP00000463233.1:p.Ile76del
ENST00000421491.3:c.225_227del	ENSP00000463233.1:p.Ile76del
NM_001114734.1:c.399_401del	NP_001108206.2:p.Ile134del
NM_001114734.2:c.225_227del MANE Select	NP_001108206.3:p.Ile76del
NM_001363585.1:c.225_227del	NP_001350514.1:p.Ile76del
XR_001741133.1:n.764_766del
XR_001741134.1:n.764_766del
XR_001741135.1:n.764_766del
XR_001741136.1:n.764_766del
XR_001741137.1:n.764_766del
XR_001741138.1:n.764_766del
XR_001741139.1:n.759_761del