Canonical Allele Identifier: CA1768215509
Gene: NAT2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18393473_18393474delinsAT , CM000670.2:g.18393473_18393474delinsAT GRCh38
NC_000008.10:g.18250983_18250984delinsAT , CM000670.1:g.18250983_18250984delinsAT GRCh37
NC_000008.9:g.18295263_18295264delinsAT NCBI36
NG_012246.1:g.7229_7230delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000286479.4:c.-7+2128_-7+2129delinsAT MANE Select ENSP00000286479.3:n.-7+2128_-7+2129delinsAT
ENST00000286479.3:c.-7+2128_-7+2129delinsAT ENSP00000286479.3:n.-7+2128_-7+2129delinsAT
ENST00000520116.1:c.-58+2128_-58+2129delinsAT ENSP00000428416.1:n.-58+2128_-58+2129delinsAT
NM_000015.2:c.-7+2128_-7+2129delinsAT NP_000006.2:n.-7+2128_-7+2129delinsAT
XM_011544358.1:c.-7+737_-7+738delinsAT XP_011542660.1:n.-7+737_-7+738delinsAT
XM_017012938.1:c.-7+6437_-7+6438delinsAT XP_016868427.1:n.-7+6437_-7+6438delinsAT
NM_000015.3:c.-7+2128_-7+2129delinsAT MANE Select NP_000006.2:n.-7+2128_-7+2129delinsAT