Canonical Allele Identifier: CA2577005383
Gene: NAT8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73640948_73640949del , CM000664.2:g.73640948_73640949del GRCh38
NC_000002.11:g.73868075_73868076del , CM000664.1:g.73868075_73868076del GRCh37
NC_000002.10:g.73721583_73721584del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000272425.4:c.682_683del MANE Select ENSP00000272425.3:p.Ter228IleextTer10
ENST00000272425.3:c.682_683del ENSP00000272425.3:p.Ter228IleextTer10
NM_003960.3:c.682_683del NP_003951.3:p.Ter228IleextTer10
NM_003960.4:c.682_683del MANE Select NP_003951.3:p.Ter228IleextTer10