Canonical Allele Identifier: CA1768218831
Gene: NAT2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18400150_18400178delinsGTTGGGCTTAGAGGCTATTTTTGATCACA , CM000670.2:g.18400150_18400178delinsGTTGGGCTTAGAGGCTATTTTTGATCACA GRCh38
NC_000008.10:g.18257660_18257688delinsGTTGGGCTTAGAGGCTATTTTTGATCACA , CM000670.1:g.18257660_18257688delinsGTTGGGCTTAGAGGCTATTTTTGATCACA GRCh37
NC_000008.9:g.18301940_18301968delinsGTTGGGCTTAGAGGCTATTTTTGATCACA NCBI36
NG_012246.1:g.13906_13934delinsGTTGGGCTTAGAGGCTATTTTTGATCACA

Transcript Alleles

HGVS Amino-acid Change
ENST00000286479.4:c.147_175delinsGTTGGGCTTAGAGGCTATTTTTGATCACA MANE Select ENSP00000286479.3:p.Glu49=
ENST00000286479.3:c.147_175delinsGTTGGGCTTAGAGGCTATTTTTGATCACA ENSP00000286479.3:p.Glu49=
ENST00000520116.1:c.-57-187_-57-159delinsGTTGGGCTTAGAGGCTATTTTTGATCACA ENSP00000428416.1:n.-57-187_-57-159delinsGTTGGGCTTAGAGGCTATTT...
NM_000015.2:c.147_175delinsGTTGGGCTTAGAGGCTATTTTTGATCACA NP_000006.2:p.Glu49=
XM_011544358.1:c.147_175delinsGTTGGGCTTAGAGGCTATTTTTGATCACA XP_011542660.1:p.Glu49=
XM_017012938.1:c.147_175delinsGTTGGGCTTAGAGGCTATTTTTGATCACA XP_016868427.1:p.Glu49=
NM_000015.3:c.147_175delinsGTTGGGCTTAGAGGCTATTTTTGATCACA MANE Select NP_000006.2:p.Glu49=