Canonical Allele Identifier: CA2578196348

Gene: PABPC4L

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.134200335del , CM000666.2:g.134200335del	GRCh38
NC_000004.11:g.135121490del , CM000666.1:g.135121490del	GRCh37
NC_000004.10:g.135340940del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000421491.4:c.685del MANE Select	ENSP00000463233.1:p.Ser229ProfsTer7
ENST00000421491.3:c.685del	ENSP00000463233.1:p.Ser229ProfsTer7
NM_001114734.1:c.859del	NP_001108206.2:p.Ser287ProfsTer7
NM_001114734.2:c.685del MANE Select	NP_001108206.3:p.Ser229ProfsTer7
NM_001363585.1:c.685del	NP_001350514.1:p.Ser229ProfsTer7
XR_001741133.1:n.1224del
XR_001741134.1:n.1224del
XR_001741135.1:n.1224del
XR_001741136.1:n.1224del
XR_001741137.1:n.1224del
XR_001741138.1:n.1224del
XR_001741139.1:n.1219del