Canonical Allele Identifier: CA2672091038
Gene: PABPC4L HGNC NCBI

Linked Data

gnomAD v4: 4-134200369-CAGAGTTT-C
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.134200370_134200376del , CM000666.2:g.134200370_134200376del GRCh38
NC_000004.11:g.135121525_135121531del , CM000666.1:g.135121525_135121531del GRCh37
NC_000004.10:g.135340975_135340981del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000421491.4:c.644_650del MANE Select ENSP00000463233.1:p.Lys215ArgfsTer5
ENST00000421491.3:c.644_650del ENSP00000463233.1:p.Lys215ArgfsTer5
NM_001114734.1:c.818_824del NP_001108206.2:p.Lys273ArgfsTer5
NM_001114734.2:c.644_650del MANE Select NP_001108206.3:p.Lys215ArgfsTer5
NM_001363585.1:c.644_650del NP_001350514.1:p.Lys215ArgfsTer5
XR_001741133.1:n.1183_1189del
XR_001741134.1:n.1183_1189del
XR_001741135.1:n.1183_1189del
XR_001741136.1:n.1183_1189del
XR_001741137.1:n.1183_1189del
XR_001741138.1:n.1183_1189del
XR_001741139.1:n.1178_1184del
Search 100 bp 5'
Search 100 bp 3'