Canonical Allele Identifier: CA2659622951

Gene: NAT8 ALMS1P1

Linked Data

• gnomAD v4: 2-73641310-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73641311del , CM000664.2:g.73641311del	GRCh38
NC_000002.11:g.73868438del , CM000664.1:g.73868438del	GRCh37
NC_000002.10:g.73721946del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272425.4:c.318del (NAT8) MANE Select	ENSP00000272425.3:p.Ser107ProfsTer16
ENST00000652439.1:n.229del (ALMS1P1)
ENST00000272425.3:c.318del (NAT8)	ENSP00000272425.3:p.Ser107ProfsTer16
NM_003960.3:c.318del (NAT8)	NP_003951.3:p.Ser107ProfsTer16
NM_003960.4:c.318del (NAT8) MANE Select	NP_003951.3:p.Ser107ProfsTer16