Canonical Allele Identifier: CA1715652
Gene: NAT8 HGNC NCBI

Linked Data

dbSNP Id: rs781261155
ExAC: 2:73868151 CAGA / C
gnomAD v2: 2-73868151-CAGA-C
gnomAD v3: 2-73641024-CAGA-C
gnomAD v4: 2-73641024-CAGA-C
MyVariant Identifiers: chr2:g.73868152_73868154del (hg19) chr2:g.73641025_73641027del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73641030_73641032del , CM000664.2:g.73641030_73641032del GRCh38
NC_000002.11:g.73868157_73868159del , CM000664.1:g.73868157_73868159del GRCh37
NC_000002.10:g.73721665_73721667del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000272425.4:c.602_604del MANE Select ENSP00000272425.3:p.Phe201del
ENST00000272425.3:c.602_604del ENSP00000272425.3:p.Phe201del
NM_003960.3:c.602_604del NP_003951.3:p.Phe201del
NM_003960.4:c.602_604del MANE Select NP_003951.3:p.Phe201del
Search 100 bp 5'
Search 100 bp 3'