Canonical Allele Identifier: CA580502500

Gene: NAT2

Linked Data

• dbSNP Id: rs1351458528
• gnomAD v2: 8-18257676-AT-A
• gnomAD v4: 8-18400166-AT-A
• MyVariant Identifiers: chr8:g.18257677del (hg19) ; chr8:g.18400167del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18400171del , CM000670.2:g.18400171del	GRCh38
NC_000008.10:g.18257681del , CM000670.1:g.18257681del	GRCh37
NC_000008.9:g.18301961del	NCBI36
NG_012246.1:g.13927del

Transcript Alleles

HGVS	Amino-acid change
ENST00000286479.4:c.168del MANE Select	ENSP00000286479.3:p.Phe56LeufsTer5
ENST00000286479.3:c.168del	ENSP00000286479.3:p.Phe56LeufsTer5
ENST00000520116.1:c.-57-166del	ENSP00000428416.1:n.-57-166del
NM_000015.2:c.168del	NP_000006.2:p.Phe56LeufsTer5
XM_011544358.1:c.168del	XP_011542660.1:p.Phe56LeufsTer5
XM_017012938.1:c.168del	XP_016868427.1:p.Phe56LeufsTer5
NM_000015.3:c.168del MANE Select	NP_000006.2:p.Phe56LeufsTer5