Canonical Allele Identifier: CA1715741
Gene: NAT8 HGNC NCBI
ALMS1P1 HGNC NCBI

Linked Data

dbSNP Id: rs753000921
ExAC: 2:73868478 TC / T
gnomAD v2: 2-73868478-TC-T
gnomAD v4: 2-73641351-TC-T
MyVariant Identifiers: chr2:g.73868479del (hg19) chr2:g.73641352del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73641352del , CM000664.2:g.73641352del GRCh38
NC_000002.11:g.73868479del , CM000664.1:g.73868479del GRCh37
NC_000002.10:g.73721987del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000272425.4:c.277del (NAT8) MANE Select ENSP00000272425.3:p.Asp93ThrfsTer10
ENST00000652439.1:n.243+27del (ALMS1P1)
ENST00000272425.3:c.277del (NAT8) ENSP00000272425.3:p.Asp93ThrfsTer10
NM_003960.3:c.277del (NAT8) NP_003951.3:p.Asp93ThrfsTer10
NM_003960.4:c.277del (NAT8) MANE Select NP_003951.3:p.Asp93ThrfsTer10
Search 100 bp 5'
Search 100 bp 3'