Canonical Allele Identifier: CA2499225052
Gene: USP14 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.178970_178973del , CM000680.2:g.178970_178973del GRCh38
NC_000018.9:g.178970_178973del , CM000680.1:g.178970_178973del GRCh37
NC_000018.8:g.168970_168973del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000261601.8:c.233_236del MANE Select ENSP00000261601.6:p.Leu78GlnfsTer11
ENST00000261601.7:c.233_236del ENSP00000261601.6:p.Leu78GlnfsTer11
ENST00000383589.6:c.163-1266_163-1263del ENSP00000373083.2:n.163-1266_163-1263del
ENST00000400266.7:c.200_203del ENSP00000383125.3:p.Leu67GlnfsTer11
ENST00000578942.5:n.334-1266_334-1263del
ENST00000582707.5:c.196-1266_196-1263del ENSP00000464447.1:n.196-1266_196-1263del
ENST00000583119.5:c.131_134del
NM_001037334.1:c.196-1266_196-1263del NP_001032411.1:n.196-1266_196-1263del
NM_005151.3:c.233_236del NP_005142.1:p.Leu78GlnfsTer11
NM_005151.4:c.233_236del MANE Select NP_005142.1:p.Leu78GlnfsTer11
NM_001037334.2:c.196-1266_196-1263del NP_001032411.1:n.196-1266_196-1263del
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