Canonical Allele Identifier: CA2686326437
Gene: NAT2 HGNC NCBI

Linked Data

gnomAD v4: 8-18400236-CT-C
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18400237del , CM000670.2:g.18400237del GRCh38
NC_000008.10:g.18257747del , CM000670.1:g.18257747del GRCh37
NC_000008.9:g.18302027del NCBI36
NG_012246.1:g.13993del

Transcript Alleles

HGVS Amino-acid change
ENST00000286479.4:c.234del MANE Select ENSP00000286479.3:p.Leu79Ter
ENST00000286479.3:c.234del ENSP00000286479.3:p.Leu79Ter
ENST00000520116.1:c.-57-100del ENSP00000428416.1:n.-57-100del
NM_000015.2:c.234del NP_000006.2:p.Leu79Ter
XM_011544358.1:c.234del XP_011542660.1:p.Leu79Ter
XM_017012938.1:c.234del XP_016868427.1:p.Leu79Ter
NM_000015.3:c.234del MANE Select NP_000006.2:p.Leu79Ter
Search 100 bp 5'
Search 100 bp 3'