Canonical Allele Identifier: CA173519058
Gene: NAT2 HGNC NCBI

Linked Data

dbSNP Id: rs538823317
gnomAD v2: 8-18251026-G-GA
gnomAD v3: 8-18393516-G-GA
gnomAD v4: 8-18393516-G-GA
MyVariant Identifiers: chr8:g.18251026_18251027insA (hg19) chr8:g.18393516_18393517insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18393520dup , CM000670.2:g.18393520dup GRCh38
NC_000008.10:g.18251030dup , CM000670.1:g.18251030dup GRCh37
NC_000008.9:g.18295310dup NCBI36
NG_012246.1:g.7276dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000286479.4:c.-7+2175dup MANE Select ENSP00000286479.3:n.-7+2175dup
ENST00000286479.3:c.-7+2175dup ENSP00000286479.3:n.-7+2175dup
ENST00000520116.1:c.-58+2175dup ENSP00000428416.1:n.-58+2175dup
NM_000015.2:c.-7+2175dup NP_000006.2:n.-7+2175dup
XM_011544358.1:c.-7+784dup XP_011542660.1:n.-7+784dup
XM_017012938.1:c.-6-6478dup XP_016868427.1:n.-6-6478dup
NM_000015.3:c.-7+2175dup MANE Select NP_000006.2:n.-7+2175dup
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