Canonical Allele Identifier: CA1261057271

Gene: NAT8 ALMS1P1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73641316_73641320delinsGCTCA , CM000664.2:g.73641316_73641320delinsGCTCA	GRCh38
NC_000002.11:g.73868443_73868447delinsGCTCA , CM000664.1:g.73868443_73868447delinsGCTCA	GRCh37
NC_000002.10:g.73721951_73721955delinsGCTCA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272425.4:c.309_313delinsTGAGC (NAT8) MANE Select	ENSP00000272425.3:p.Ser103=
ENST00000652439.1:n.234_238delinsGCTCA (ALMS1P1)
ENST00000272425.3:c.309_313delinsTGAGC (NAT8)	ENSP00000272425.3:p.Ser103=
NM_003960.3:c.309_313delinsTGAGC (NAT8)	NP_003951.3:p.Ser103=
NM_003960.4:c.309_313delinsTGAGC (NAT8) MANE Select	NP_003951.3:p.Ser103=