Canonical Allele Identifier: CA4651557

Gene: NAT2

Linked Data

• dbSNP Id: rs753823712
• ExAC: 8:18257645 TG / T
• gnomAD v2: 8-18257645-TG-T
• MyVariant Identifiers: chr8:g.18257646del (hg19) ; chr8:g.18400136del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18400138del , CM000670.2:g.18400138del	GRCh38
NC_000008.10:g.18257648del , CM000670.1:g.18257648del	GRCh37
NC_000008.9:g.18301928del	NCBI36
NG_012246.1:g.13894del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000286479.4:c.135del MANE Select	ENSP00000286479.3:p.Gln46LysfsTer7
ENST00000286479.3:c.135del	ENSP00000286479.3:p.Gln46LysfsTer7
ENST00000520116.1:c.-57-199del	ENSP00000428416.1:n.-57-199del
NM_000015.2:c.135del	NP_000006.2:p.Gln46LysfsTer7
XM_011544358.1:c.135del	XP_011542660.1:p.Gln46LysfsTer7
XM_017012938.1:c.135del	XP_016868427.1:p.Gln46LysfsTer7
NM_000015.3:c.135del MANE Select	NP_000006.2:p.Gln46LysfsTer7