Canonical Allele Identifier: CA1768215506
Gene: NAT2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18393470_18393474delinsAAAAT , CM000670.2:g.18393470_18393474delinsAAAAT GRCh38
NC_000008.10:g.18250980_18250984delinsAAAAT , CM000670.1:g.18250980_18250984delinsAAAAT GRCh37
NC_000008.9:g.18295260_18295264delinsAAAAT NCBI36
NG_012246.1:g.7226_7230delinsAAAAT

Transcript Alleles

HGVS Amino-acid change
ENST00000286479.4:c.-7+2125_-7+2129delinsAAAAT MANE Select ENSP00000286479.3:n.-7+2125_-7+2129delinsAAAAT
ENST00000286479.3:c.-7+2125_-7+2129delinsAAAAT ENSP00000286479.3:n.-7+2125_-7+2129delinsAAAAT
ENST00000520116.1:c.-58+2125_-58+2129delinsAAAAT ENSP00000428416.1:n.-58+2125_-58+2129delinsAAAAT
NM_000015.2:c.-7+2125_-7+2129delinsAAAAT NP_000006.2:n.-7+2125_-7+2129delinsAAAAT
XM_011544358.1:c.-7+734_-7+738delinsAAAAT XP_011542660.1:n.-7+734_-7+738delinsAAAAT
XM_017012938.1:c.-7+6434_-7+6438delinsAAAAT XP_016868427.1:n.-7+6434_-7+6438delinsAAAAT
NM_000015.3:c.-7+2125_-7+2129delinsAAAAT MANE Select NP_000006.2:n.-7+2125_-7+2129delinsAAAAT