Canonical Allele Identifier: CA2716562817
Gene: NAT2 HGNC NCBI

Linked Data

dbSNP Id: rs2117613638

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18393539del , CM000670.2:g.18393539del GRCh38
NC_000008.10:g.18251049del , CM000670.1:g.18251049del GRCh37
NC_000008.9:g.18295329del NCBI36
NG_012246.1:g.7295del

Transcript Alleles

HGVS Amino-acid Change
ENST00000286479.4:c.-7+2194del MANE Select ENSP00000286479.3:n.-7+2194del
ENST00000286479.3:c.-7+2194del ENSP00000286479.3:n.-7+2194del
ENST00000520116.1:c.-58+2194del ENSP00000428416.1:n.-58+2194del
NM_000015.2:c.-7+2194del NP_000006.2:n.-7+2194del
XM_011544358.1:c.-7+803del XP_011542660.1:n.-7+803del
XM_017012938.1:c.-6-6459del XP_016868427.1:n.-6-6459del
NM_000015.3:c.-7+2194del MANE Select NP_000006.2:n.-7+2194del