Canonical Allele Identifier: CA2659622953
Gene: NAT8 HGNC NCBI
ALMS1P1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73641327_73641330del , CM000664.2:g.73641327_73641330del GRCh38
NC_000002.11:g.73868454_73868457del , CM000664.1:g.73868454_73868457del GRCh37
NC_000002.10:g.73721962_73721965del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000272425.4:c.302_305del (NAT8) MANE Select ENSP00000272425.3:p.Tyr101Ter
ENST00000652439.1:n.243+2_243+5del (ALMS1P1)
ENST00000272425.3:c.302_305del (NAT8) ENSP00000272425.3:p.Tyr101Ter
NM_003960.3:c.302_305del (NAT8) NP_003951.3:p.Tyr101Ter
NM_003960.4:c.302_305del (NAT8) MANE Select NP_003951.3:p.Tyr101Ter