Canonical Allele Identifier: CA1768219112

Gene: NAT2

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18400710_18400711insAATTAAGAAATTCTTTGTTTGTAATATA , CM000670.2:g.18400710_18400711insAATTAAGAAATTCTTTGTTTGTAATATA	GRCh38
NC_000008.10:g.18258220_18258221insAATTAAGAAATTCTTTGTTTGTAATATA , CM000670.1:g.18258220_18258221insAATTAAGAAATTCTTTGTTTGTAATATA	GRCh37
NC_000008.9:g.18302500_18302501insAATTAAGAAATTCTTTGTTTGTAATATA	NCBI36
NG_012246.1:g.14466_14467insAATTAAGAAATTCTTTGTTTGTAATATA

Transcript Alleles

HGVS	Amino-acid Change
NM_000015.3:c.707_708insAATTAAGAAATTCTTTGTTTGTAATATA MANE Select	NP_000006.2:p.Phe237IlefsTer15
ENST00000286479.4:c.707_708insAATTAAGAAATTCTTTGTTTGTAATATA MANE Select	ENSP00000286479.3:p.Phe237IlefsTer15
NM_000015.2:c.707_708insAATTAAGAAATTCTTTGTTTGTAATATA	NP_000006.2:p.Phe237IlefsTer15
ENST00000286479.3:c.707_708insAATTAAGAAATTCTTTGTTTGTAATATA	ENSP00000286479.3:p.Phe237IlefsTer15
ENST00000520116.1:c.317_318insAATTAAGAAATTCTTTGTTTGTAATATA	ENSP00000428416.1:p.Phe107IlefsTer15
XM_011544358.1:c.707_708insAATTAAGAAATTCTTTGTTTGTAATATA	XP_011542660.1:p.Phe237IlefsTer15
XM_017012938.1:c.707_708insAATTAAGAAATTCTTTGTTTGTAATATA	XP_016868427.1:p.Phe237IlefsTer15