Canonical Allele Identifier: CA555019103

Gene: PABPC4L

Linked Data

• dbSNP Id: rs1346951146
• gnomAD v2: 4-135122037-GACCT-G
• MyVariant Identifiers: chr4:g.135122038_135122041del (hg19) ; chr4:g.134200883_134200886del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.134200883_134200886del , CM000666.2:g.134200883_134200886del	GRCh38
NC_000004.11:g.135122038_135122041del , CM000666.1:g.135122038_135122041del	GRCh37
NC_000004.10:g.135341488_135341491del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000421491.4:c.134_137del MANE Select	ENSP00000463233.1:p.Gln45ProfsTer11
ENST00000421491.3:c.134_137del	ENSP00000463233.1:p.Gln45ProfsTer11
NM_001114734.1:c.308_311del	NP_001108206.2:p.Gln103ProfsTer11
NM_001114734.2:c.134_137del MANE Select	NP_001108206.3:p.Gln45ProfsTer11
NM_001363585.1:c.134_137del	NP_001350514.1:p.Gln45ProfsTer11
XR_001741133.1:n.673_676del
XR_001741134.1:n.673_676del
XR_001741135.1:n.673_676del
XR_001741136.1:n.673_676del
XR_001741137.1:n.673_676del
XR_001741138.1:n.673_676del
XR_001741139.1:n.668_671del