Canonical Allele Identifier: CA2576641108
Gene: NACC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.13135272_13135273del , CM000681.2:g.13135272_13135273del GRCh38
NC_000019.9:g.13246086_13246087del , CM000681.1:g.13246086_13246087del GRCh37
NC_000019.8:g.13107086_13107087del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000586171.3:c.65_66del ENSP00000467120.2:p.Glu22AlafsTer9
ENST00000700232.1:c.65_66del ENSP00000514870.1:p.Glu22AlafsTer9
ENST00000292431.5:c.65_66del MANE Select ENSP00000292431.3:p.Glu22AlafsTer9
ENST00000586171.2:c.65_66del ENSP00000467120.1:p.Glu22AlafsTer9
ENST00000292431.4:c.65_66del ENSP00000292431.3:p.Glu22AlafsTer9
ENST00000586171.1:c.65_66del ENSP00000467120.1:p.Glu22AlafsTer9
NM_052876.3:c.65_66del NP_443108.1:p.Glu22AlafsTer9
XM_005259721.2:c.65_66del XP_005259778.1:p.Glu22AlafsTer9
XM_005259721.3:c.65_66del XP_005259778.1:p.Glu22AlafsTer9
NM_052876.4:c.65_66del MANE Select NP_443108.1:p.Glu22AlafsTer9