Canonical Allele Identifier: CA2577005384
Gene: NAT8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73640971_73640978del , CM000664.2:g.73640971_73640978del GRCh38
NC_000002.11:g.73868098_73868105del , CM000664.1:g.73868098_73868105del GRCh37
NC_000002.10:g.73721606_73721613del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000272425.4:c.652_659del MANE Select ENSP00000272425.3:p.His218PhefsTer3
ENST00000272425.3:c.652_659del ENSP00000272425.3:p.His218PhefsTer3
NM_003960.3:c.652_659del NP_003951.3:p.His218PhefsTer3
NM_003960.4:c.652_659del MANE Select NP_003951.3:p.His218PhefsTer3