Canonical Allele Identifier: CA2686326441
Gene: NAT2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18400707_18400708del , CM000670.2:g.18400707_18400708del GRCh38
NC_000008.10:g.18258217_18258218del , CM000670.1:g.18258217_18258218del GRCh37
NC_000008.9:g.18302497_18302498del NCBI36
NG_012246.1:g.14463_14464del

Transcript Alleles

HGVS Amino-acid Change
ENST00000286479.4:c.704_705del MANE Select ENSP00000286479.3:p.Val235GlyfsTer7
ENST00000286479.3:c.704_705del ENSP00000286479.3:p.Val235GlyfsTer7
ENST00000520116.1:c.314_315del ENSP00000428416.1:p.Val105GlyfsTer7
NM_000015.2:c.704_705del NP_000006.2:p.Val235GlyfsTer7
XM_011544358.1:c.704_705del XP_011542660.1:p.Val235GlyfsTer7
XM_017012938.1:c.704_705del XP_016868427.1:p.Val235GlyfsTer7
NM_000015.3:c.704_705del MANE Select NP_000006.2:p.Val235GlyfsTer7