Canonical Allele Identifier: CA580502459

Gene: NAT2

Linked Data

• dbSNP Id: rs1478531962
• gnomAD v2: 8-18257839-TC-T
• gnomAD v4: 8-18400329-TC-T
• MyVariant Identifiers: chr8:g.18257840del (hg19) ; chr8:g.18400330del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18400331del , CM000670.2:g.18400331del	GRCh38
NC_000008.10:g.18257841del , CM000670.1:g.18257841del	GRCh37
NC_000008.9:g.18302121del	NCBI36
NG_012246.1:g.14087del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000286479.4:c.328del MANE Select	ENSP00000286479.3:p.Leu110CysfsTer3
ENST00000286479.3:c.328del	ENSP00000286479.3:p.Leu110CysfsTer3
ENST00000520116.1:c.-57-6del	ENSP00000428416.1:n.-57-6del
NM_000015.2:c.328del	NP_000006.2:p.Leu110CysfsTer3
XM_011544358.1:c.328del	XP_011542660.1:p.Leu110CysfsTer3
XM_017012938.1:c.328del	XP_016868427.1:p.Leu110CysfsTer3
NM_000015.3:c.328del MANE Select	NP_000006.2:p.Leu110CysfsTer3