Canonical Allele Identifier: CA2763628675

Gene: PABPC4L

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.134200728del , CM000666.2:g.134200728del	GRCh38
NC_000004.11:g.135121883del , CM000666.1:g.135121883del	GRCh37
NC_000004.10:g.135341333del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000421491.4:c.294del MANE Select	ENSP00000463233.1:p.Asn99ThrfsTer?
ENST00000421491.3:c.294del	ENSP00000463233.1:p.Asn99ThrfsTer?
NM_001114734.1:c.468del	NP_001108206.2:p.Asn157ThrfsTer?
NM_001114734.2:c.294del MANE Select	NP_001108206.3:p.Asn99ThrfsTer?
NM_001363585.1:c.294del	NP_001350514.1:p.Asn99ThrfsTer?
XR_001741133.1:n.833del
XR_001741134.1:n.833del
XR_001741135.1:n.833del
XR_001741136.1:n.833del
XR_001741137.1:n.833del
XR_001741138.1:n.833del
XR_001741139.1:n.828del