Canonical Allele Identifier: CA2577005366
Gene: NAT8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73640851del , CM000664.2:g.73640851del GRCh38
NC_000002.11:g.73867978del , CM000664.1:g.73867978del GRCh37
NC_000002.10:g.73721486del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000272425.4:c.*97del MANE Select ENSP00000272425.3:n.*97del
ENST00000272425.3:c.*97del ENSP00000272425.3:n.*97del
NM_003960.3:c.*97del NP_003951.3:n.*97del
NM_003960.4:c.*97del MANE Select NP_003951.3:n.*97del