Canonical Allele Identifier: CA555019083

Gene: PABPC4L

Linked Data

• dbSNP Id: rs1156447842
• gnomAD v2: 4-135121467-ACT-A
• gnomAD v3: 4-134200312-ACT-A
• gnomAD v4: 4-134200312-ACT-A
• MyVariant Identifiers: chr4:g.135121468_135121469del (hg19) ; chr4:g.134200313_134200314del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.134200314_134200315del , CM000666.2:g.134200314_134200315del	GRCh38
NC_000004.11:g.135121469_135121470del , CM000666.1:g.135121469_135121470del	GRCh37
NC_000004.10:g.135340919_135340920del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000421491.4:c.706_707del MANE Select	ENSP00000463233.1:p.Ser236PhefsTer2
ENST00000421491.3:c.706_707del	ENSP00000463233.1:p.Ser236PhefsTer2
NM_001114734.1:c.880_881del	NP_001108206.2:p.Ser294PhefsTer2
NM_001114734.2:c.706_707del MANE Select	NP_001108206.3:p.Ser236PhefsTer2
NM_001363585.1:c.706_707del	NP_001350514.1:p.Ser236PhefsTer2
XR_001741133.1:n.1245_1246del
XR_001741134.1:n.1245_1246del
XR_001741135.1:n.1245_1246del
XR_001741136.1:n.1245_1246del
XR_001741137.1:n.1245_1246del
XR_001741138.1:n.1245_1246del
XR_001741139.1:n.1240_1241del