Canonical Allele Identifier: CA1715622

Gene: NAT8

Linked Data

• dbSNP Id: rs766693216
• ExAC: 2:73868066 AAG / A
• gnomAD v2: 2-73868066-AAG-A
• gnomAD v4: 2-73640939-AAG-A
• MyVariant Identifiers: chr2:g.73868067_73868068del (hg19) ; chr2:g.73640940_73640941del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73640943_73640944del , CM000664.2:g.73640943_73640944del	GRCh38
NC_000002.11:g.73868070_73868071del , CM000664.1:g.73868070_73868071del	GRCh37
NC_000002.10:g.73721578_73721579del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272425.4:c.*4_*5del MANE Select	ENSP00000272425.3:n.*4_*5del
ENST00000272425.3:c.*4_*5del	ENSP00000272425.3:n.*4_*5del
NM_003960.3:c.*4_*5del	NP_003951.3:n.*4_*5del
NM_003960.4:c.*4_*5del MANE Select	NP_003951.3:n.*4_*5del