Canonical Allele Identifier: CA2550720478
Gene: NAT2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18400767_18400768insCAAGCGTAAA , CM000670.2:g.18400767_18400768insCAAGCGTAAA GRCh38
NC_000008.10:g.18258277_18258278insCAAGCGTAAA , CM000670.1:g.18258277_18258278insCAAGCGTAAA GRCh37
NC_000008.9:g.18302557_18302558insCAAGCGTAAA NCBI36
NG_012246.1:g.14523_14524insCAAGCGTAAA

Transcript Alleles

HGVS Amino-acid change
ENST00000286479.4:c.764_765insCAAGCGTAAA MANE Select ENSP00000286479.3:p.Thr257ArgfsTer3
ENST00000286479.3:c.764_765insCAAGCGTAAA ENSP00000286479.3:p.Thr257ArgfsTer3
ENST00000520116.1:c.374_375insCAAGCGTAAA ENSP00000428416.1:p.Thr127ArgfsTer3
NM_000015.2:c.764_765insCAAGCGTAAA NP_000006.2:p.Thr257ArgfsTer3
XM_011544358.1:c.764_765insCAAGCGTAAA XP_011542660.1:p.Thr257ArgfsTer3
XM_017012938.1:c.764_765insCAAGCGTAAA XP_016868427.1:p.Thr257ArgfsTer3
NM_000015.3:c.764_765insCAAGCGTAAA MANE Select NP_000006.2:p.Thr257ArgfsTer3