Canonical Allele Identifier: CA892867001
Gene: NAT8 HGNC NCBI

Linked Data

dbSNP Id: rs1254530973
gnomAD v3: 2-73640962-TAGA-T
gnomAD v4: 2-73640962-TAGA-T
MyVariant Identifiers: chr2:g.73868090_73868092del (hg19) chr2:g.73640963_73640965del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73640968_73640970del , CM000664.2:g.73640968_73640970del GRCh38
NC_000002.11:g.73868095_73868097del , CM000664.1:g.73868095_73868097del GRCh37
NC_000002.10:g.73721603_73721605del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000272425.4:c.664_666del MANE Select ENSP00000272425.3:p.Ser222del
ENST00000272425.3:c.664_666del ENSP00000272425.3:p.Ser222del
NM_003960.3:c.664_666del NP_003951.3:p.Ser222del
NM_003960.4:c.664_666del MANE Select NP_003951.3:p.Ser222del
Search 100 bp 5'
Search 100 bp 3'