Canonical Allele Identifier: CA2609458532
Gene: NEUROG3 HGNC NCBI

Linked Data

gnomAD v4: 10-69572445-GA-G
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.69572449del , CM000672.2:g.69572449del GRCh38
NC_000010.10:g.71332205del , CM000672.1:g.71332205del GRCh37
NC_000010.9:g.71002211del NCBI36
NG_021321.1:g.6009del

Transcript Alleles

HGVS Amino-acid change
ENST00000242462.5:c.598del MANE Select ENSP00000242462.4:p.Ser200ProfsTer4
ENST00000242462.4:c.598del ENSP00000242462.4:p.Ser200ProfsTer4
NM_020999.3:c.598del NP_066279.2:p.Ser200ProfsTer4
XM_017016280.1:c.598del XP_016871769.1:p.Ser200ProfsTer4
NM_020999.4:c.598del MANE Select NP_066279.2:p.Ser200ProfsTer4
Search 100 bp 5'
Search 100 bp 3'