Canonical Allele Identifier: CA173518496
Gene: NAT2 HGNC NCBI

Linked Data

dbSNP Id: rs984108941
gnomAD v2: 8-18246490-TCA-T
gnomAD v3: 8-18388980-TCA-T
gnomAD v4: 8-18388980-TCA-T
MyVariant Identifiers: chr8:g.18246491_18246492del (hg19) chr8:g.18388981_18388982del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18388984_18388985del , CM000670.2:g.18388984_18388985del GRCh38
NC_000008.10:g.18246494_18246495del , CM000670.1:g.18246494_18246495del GRCh37
NC_000008.9:g.18290774_18290775del NCBI36
NG_012246.1:g.2740_2741del

Transcript Alleles

HGVS Amino-acid Change
XM_017012938.1:c.-7+1948_-7+1949del XP_016868427.1:n.-7+1948_-7+1949del
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