Canonical Allele Identifier: CA2659622949

Gene: NAT8 ALMS1P1

Linked Data

• gnomAD v4: 2-73641157-C-CCTTCTGT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73641158_73641159insTTCTGTC , CM000664.2:g.73641158_73641159insTTCTGTC	GRCh38
NC_000002.11:g.73868285_73868286insTTCTGTC , CM000664.1:g.73868285_73868286insTTCTGTC	GRCh37
NC_000002.10:g.73721793_73721794insTTCTGTC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272425.4:c.471_472insACAGAAG (NAT8) MANE Select	ENSP00000272425.3:p.Val158ThrfsTer17
ENST00000652439.1:n.76_77insTTCTGTC (ALMS1P1)
ENST00000272425.3:c.471_472insACAGAAG (NAT8)	ENSP00000272425.3:p.Val158ThrfsTer17
NM_003960.3:c.471_472insACAGAAG (NAT8)	NP_003951.3:p.Val158ThrfsTer17
NM_003960.4:c.471_472insACAGAAG (NAT8) MANE Select	NP_003951.3:p.Val158ThrfsTer17