Canonical Allele Identifier: CA2779261217
Gene: NAT2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18400110_18400111dup , CM000670.2:g.18400110_18400111dup GRCh38
NC_000008.10:g.18257620_18257621dup , CM000670.1:g.18257620_18257621dup GRCh37
NC_000008.9:g.18301900_18301901dup NCBI36
NG_012246.1:g.13866_13867dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000286479.4:c.107_108dup MANE Select ENSP00000286479.3:p.Phe37ProfsTer17
ENST00000286479.3:c.107_108dup ENSP00000286479.3:p.Phe37ProfsTer17
ENST00000520116.1:c.-57-227_-57-226dup ENSP00000428416.1:n.-57-227_-57-226dup
NM_000015.2:c.107_108dup NP_000006.2:p.Phe37ProfsTer17
XM_011544358.1:c.107_108dup XP_011542660.1:p.Phe37ProfsTer17
XM_017012938.1:c.107_108dup XP_016868427.1:p.Phe37ProfsTer17
NM_000015.3:c.107_108dup MANE Select NP_000006.2:p.Phe37ProfsTer17