Canonical Allele Identifier: CA2779261213
Gene: NAT2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18400105_18400108del , CM000670.2:g.18400105_18400108del GRCh38
NC_000008.10:g.18257615_18257618del , CM000670.1:g.18257615_18257618del GRCh37
NC_000008.9:g.18301895_18301898del NCBI36
NG_012246.1:g.13861_13864del

Transcript Alleles

HGVS Amino-acid change
ENST00000286479.4:c.102_105del MANE Select ENSP00000286479.3:p.Val35ProfsTer17
ENST00000286479.3:c.102_105del ENSP00000286479.3:p.Val35ProfsTer17
ENST00000520116.1:c.-57-232_-57-229del ENSP00000428416.1:n.-57-232_-57-229del
NM_000015.2:c.102_105del NP_000006.2:p.Val35ProfsTer17
XM_011544358.1:c.102_105del XP_011542660.1:p.Val35ProfsTer17
XM_017012938.1:c.102_105del XP_016868427.1:p.Val35ProfsTer17
NM_000015.3:c.102_105del MANE Select NP_000006.2:p.Val35ProfsTer17
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