Canonical Allele Identifier: CA2610415653
Gene: HOGA1 HGNC NCBI

Linked Data

gnomAD v4: 10-97611585-GC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.97611590del , CM000672.2:g.97611590del GRCh38
NC_000010.10:g.99371347del , CM000672.1:g.99371347del GRCh37
NC_000010.9:g.99361337del NCBI36
NG_027922.1:g.32246del

Transcript Alleles

HGVS Amino-acid change
ENST00000370646.9:c.915del MANE Select ENSP00000359680.4:p.Leu306CysfsTer4
ENST00000370646.8:c.915del ENSP00000359680.4:p.Leu306CysfsTer4
ENST00000370647.8:c.426del ENSP00000359681.4:p.Leu143CysfsTer4
ENST00000370649.3:c.345+9600del ENSP00000359683.3:n.345+9600del
NM_001134670.1:c.426del NP_001128142.1:p.Leu143CysfsTer4
NM_138413.3:c.915del NP_612422.2:p.Leu306CysfsTer4
NM_138413.4:c.915del MANE Select NP_612422.2:p.Leu306CysfsTer4
NM_001134670.2:c.426del NP_001128142.1:p.Leu143CysfsTer4
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