Canonical Allele Identifier: CA1111451130
Gene: NAT2 HGNC NCBI

Linked Data

dbSNP Id: rs1800629681
gnomAD v3: 8-18393575-AG-A
gnomAD v4: 8-18393575-AG-A
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18393576del , CM000670.2:g.18393576del GRCh38
NC_000008.10:g.18251086del , CM000670.1:g.18251086del GRCh37
NC_000008.9:g.18295366del NCBI36
NG_012246.1:g.7332del

Transcript Alleles

HGVS Amino-acid Change
ENST00000286479.4:c.-7+2231del MANE Select ENSP00000286479.3:n.-7+2231del
ENST00000286479.3:c.-7+2231del ENSP00000286479.3:n.-7+2231del
ENST00000520116.1:c.-58+2231del ENSP00000428416.1:n.-58+2231del
NM_000015.2:c.-7+2231del NP_000006.2:n.-7+2231del
XM_011544358.1:c.-7+840del XP_011542660.1:n.-7+840del
XM_017012938.1:c.-6-6422del XP_016868427.1:n.-6-6422del
NM_000015.3:c.-7+2231del MANE Select NP_000006.2:n.-7+2231del
Search 100 bp 5'
Search 100 bp 3'