Canonical Allele Identifier: CA4651611
Gene: NAT2 HGNC NCBI

Linked Data

dbSNP Id: rs758175541
ExAC: 8:18257895 TC / T
gnomAD v2: 8-18257895-TC-T
gnomAD v3: 8-18400385-TC-T
gnomAD v4: 8-18400385-TC-T
MyVariant Identifiers: chr8:g.18257896del (hg19) chr8:g.18400386del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18400387del , CM000670.2:g.18400387del GRCh38
NC_000008.10:g.18257897del , CM000670.1:g.18257897del GRCh37
NC_000008.9:g.18302177del NCBI36
NG_012246.1:g.14143del

Transcript Alleles

HGVS Amino-acid Change
ENST00000286479.4:c.384del MANE Select ENSP00000286479.3:p.Ser129ProfsTer7
ENST00000286479.3:c.384del ENSP00000286479.3:p.Ser129ProfsTer7
ENST00000520116.1:c.-7del ENSP00000428416.1:n.-7del
NM_000015.2:c.384del NP_000006.2:p.Ser129ProfsTer7
XM_011544358.1:c.384del XP_011542660.1:p.Ser129ProfsTer7
XM_017012938.1:c.384del XP_016868427.1:p.Ser129ProfsTer7
NM_000015.3:c.384del MANE Select NP_000006.2:p.Ser129ProfsTer7
Search 100 bp 5'
Search 100 bp 3'