Canonical Allele Identifier: CA3081042

Gene: PABPC4L

Linked Data

• dbSNP Id: rs749070145
• ExAC: 4:135121472 C / CA
• gnomAD v2: 4-135121472-C-CA
• MyVariant Identifiers: chr4:g.135121472_135121473insA (hg19) ; chr4:g.134200317_134200318insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.134200320dup , CM000666.2:g.134200320dup	GRCh38
NC_000004.11:g.135121475dup , CM000666.1:g.135121475dup	GRCh37
NC_000004.10:g.135340925dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000421491.4:c.702dup MANE Select	ENSP00000463233.1:p.Val235CysfsTer4
ENST00000421491.3:c.702dup	ENSP00000463233.1:p.Val235CysfsTer4
NM_001114734.1:c.876dup	NP_001108206.2:p.Val293CysfsTer4
NM_001114734.2:c.702dup MANE Select	NP_001108206.3:p.Val235CysfsTer4
NM_001363585.1:c.702dup	NP_001350514.1:p.Val235CysfsTer4
XR_001741133.1:n.1241dup
XR_001741134.1:n.1241dup
XR_001741135.1:n.1241dup
XR_001741136.1:n.1241dup
XR_001741137.1:n.1241dup
XR_001741138.1:n.1241dup
XR_001741139.1:n.1236dup