Canonical Allele Identifier: CA2968152573
Gene: NAT2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18400694dup , CM000670.2:g.18400694dup GRCh38
NC_000008.10:g.18258204dup , CM000670.1:g.18258204dup GRCh37
NC_000008.9:g.18302484dup NCBI36
NG_012246.1:g.14450dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000286479.4:c.691dup MANE Select ENSP00000286479.3:p.Val231GlyfsTer12
ENST00000286479.3:c.691dup ENSP00000286479.3:p.Val231GlyfsTer12
ENST00000520116.1:c.301dup ENSP00000428416.1:p.Val101GlyfsTer12
NM_000015.2:c.691dup NP_000006.2:p.Val231GlyfsTer12
XM_011544358.1:c.691dup XP_011542660.1:p.Val231GlyfsTer12
XM_017012938.1:c.691dup XP_016868427.1:p.Val231GlyfsTer12
NM_000015.3:c.691dup MANE Select NP_000006.2:p.Val231GlyfsTer12