Canonical Allele Identifier: CA1768215472
Gene: NAT2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18393402_18393403delinsGT , CM000670.2:g.18393402_18393403delinsGT GRCh38
NC_000008.10:g.18250912_18250913delinsGT , CM000670.1:g.18250912_18250913delinsGT GRCh37
NC_000008.9:g.18295192_18295193delinsGT NCBI36
NG_012246.1:g.7158_7159delinsGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000286479.4:c.-7+2057_-7+2058delinsGT MANE Select ENSP00000286479.3:n.-7+2057_-7+2058delinsGT
ENST00000286479.3:c.-7+2057_-7+2058delinsGT ENSP00000286479.3:n.-7+2057_-7+2058delinsGT
ENST00000520116.1:c.-58+2057_-58+2058delinsGT ENSP00000428416.1:n.-58+2057_-58+2058delinsGT
NM_000015.2:c.-7+2057_-7+2058delinsGT NP_000006.2:n.-7+2057_-7+2058delinsGT
XM_011544358.1:c.-7+666_-7+667delinsGT XP_011542660.1:n.-7+666_-7+667delinsGT
XM_017012938.1:c.-7+6366_-7+6367delinsGT XP_016868427.1:n.-7+6366_-7+6367delinsGT
NM_000015.3:c.-7+2057_-7+2058delinsGT MANE Select NP_000006.2:n.-7+2057_-7+2058delinsGT