Canonical Allele Identifier: CA580502499

Gene: NAT2

Linked Data

• dbSNP Id: rs1324313404
• gnomAD v2: 8-18257660-GTTGGGCTTAGAGGCTATTTTTGATCACA-G
• gnomAD v3: 8-18400150-GTTGGGCTTAGAGGCTATTTTTGATCACA-G
• gnomAD v4: 8-18400150-GTTGGGCTTAGAGGCTATTTTTGATCACA-G
• MyVariant Identifiers: chr8:g.18257661_18257688del (hg19) ; chr8:g.18400151_18400178del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18400154_18400181del , CM000670.2:g.18400154_18400181del	GRCh38
NC_000008.10:g.18257664_18257691del , CM000670.1:g.18257664_18257691del	GRCh37
NC_000008.9:g.18301944_18301971del	NCBI36
NG_012246.1:g.13910_13937del

Transcript Alleles

HGVS	Amino-acid change
ENST00000286479.4:c.151_178del MANE Select	ENSP00000286479.3:p.Gly51Ter
ENST00000286479.3:c.151_178del	ENSP00000286479.3:p.Gly51Ter
ENST00000520116.1:c.-57-183_-57-156del	ENSP00000428416.1:n.-57-183_-57-156del
NM_000015.2:c.151_178del	NP_000006.2:p.Gly51Ter
XM_011544358.1:c.151_178del	XP_011542660.1:p.Gly51Ter
XM_017012938.1:c.151_178del	XP_016868427.1:p.Gly51Ter
NM_000015.3:c.151_178del MANE Select	NP_000006.2:p.Gly51Ter