Canonical Allele Identifier: CA892867487
Gene: NAT8 HGNC NCBI
ALMS1P1 HGNC NCBI

Linked Data

dbSNP Id: rs1446921599

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73641321_73641324del , CM000664.2:g.73641321_73641324del GRCh38
NC_000002.11:g.73868448_73868451del , CM000664.1:g.73868448_73868451del GRCh37
NC_000002.10:g.73721956_73721959del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000272425.4:c.309_312del (NAT8) MANE Select ENSP00000272425.3:p.Glu104ValfsTer18
ENST00000652439.1:n.239_242del (ALMS1P1)
ENST00000272425.3:c.309_312del (NAT8) ENSP00000272425.3:p.Glu104ValfsTer18
NM_003960.3:c.309_312del (NAT8) NP_003951.3:p.Glu104ValfsTer18
NM_003960.4:c.309_312del (NAT8) MANE Select NP_003951.3:p.Glu104ValfsTer18