Canonical Allele Identifier: CA892866997

Gene: NAT8

Linked Data

• dbSNP Id: rs1473211818
• MyVariant Identifiers: chr2:g.73868087_73868088del (hg19) ; chr2:g.73640960_73640961del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73640960_73640961del , CM000664.2:g.73640960_73640961del	GRCh38
NC_000002.11:g.73868087_73868088del , CM000664.1:g.73868087_73868088del	GRCh37
NC_000002.10:g.73721595_73721596del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272425.4:c.668_669del MANE Select	ENSP00000272425.3:p.Lys223SerfsTer15
ENST00000272425.3:c.668_669del	ENSP00000272425.3:p.Lys223SerfsTer15
NM_003960.3:c.668_669del	NP_003951.3:p.Lys223SerfsTer15
NM_003960.4:c.668_669del MANE Select	NP_003951.3:p.Lys223SerfsTer15