Canonical Allele Identifier: CA2659622947
Gene: NAT8 HGNC NCBI

Linked Data

gnomAD v4: 2-73641080-A-ACTAAATAAATATTTGTTTCATTTGGTGGTTGTTCTTATGCAACATTATCCTGGCACTAGAAAAAT
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73641080_73641081insCTAAATAAATATTTGTTTCATTTGGTGGTTGTTCTTATGCAACATTATCCTGGCACTAGAAAAAT , CM000664.2:g.73641080_73641081insCTAAATAAATATTTGTTTCATTTGGTGGTTGTTCTTATGCAACATTATCCTGGCACTAGAAAAAT GRCh38
NC_000002.11:g.73868207_73868208insCTAAATAAATATTTGTTTCATTTGGTGGTTGTTCTTATGCAACATTATCCTGGCACTAGAAAAAT , CM000664.1:g.73868207_73868208insCTAAATAAATATTTGTTTCATTTGGTGGTTGTTCTTATGCAACATTATCCTGGCACTAGAAAAAT GRCh37
NC_000002.10:g.73721715_73721716insCTAAATAAATATTTGTTTCATTTGGTGGTTGTTCTTATGCAACATTATCCTGGCACTAGAAAAAT NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000272425.4:c.548_549insATTTTTCTAGTGCCAGGATAATGTTGCATAAGAACAACCACCAAATGAAACAAATATTTATTTAG MANE Select ENSP00000272425.3:p.Ala184PhefsTer3
ENST00000272425.3:c.548_549insATTTTTCTAGTGCCAGGATAATGTTGCATAAGAACAACCACCAAATGAAACAAATATTTATTTAG ENSP00000272425.3:p.Ala184PhefsTer3
NM_003960.3:c.548_549insATTTTTCTAGTGCCAGGATAATGTTGCATAAGAACAACCACCAAATGAAACAAATATTTATTTAG NP_003951.3:p.Ala184PhefsTer3
NM_003960.4:c.548_549insATTTTTCTAGTGCCAGGATAATGTTGCATAAGAACAACCACCAAATGAAACAAATATTTATTTAG MANE Select NP_003951.3:p.Ala184PhefsTer3
Search 100 bp 5'
Search 100 bp 3'