Canonical Allele Identifier: CA2576641113
Gene: NACC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2574952
ClinVar RCV Id: RCV003319849
gnomAD v4: 19-13136047-TGAG-T
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.13136053_13136055del , CM000681.2:g.13136053_13136055del GRCh38
NC_000019.9:g.13246867_13246869del , CM000681.1:g.13246867_13246869del GRCh37
NC_000019.8:g.13107867_13107869del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000586171.3:c.846_848del ENSP00000467120.2:p.Glu282del
ENST00000700232.1:c.846_848del ENSP00000514870.1:p.Glu282del
ENST00000292431.5:c.846_848del MANE Select ENSP00000292431.3:p.Glu282del
ENST00000292431.4:c.846_848del ENSP00000292431.3:p.Glu282del
NM_052876.3:c.846_848del NP_443108.1:p.Glu282del
XM_005259721.2:c.846_848del XP_005259778.1:p.Glu282del
XM_005259721.3:c.846_848del XP_005259778.1:p.Glu282del
NM_052876.4:c.846_848del MANE Select NP_443108.1:p.Glu282del
Search 100 bp 5'
Search 100 bp 3'