Canonical Allele Identifier: CA595410115
Gene: HOGA1 HGNC NCBI

Linked Data

gnomAD v2: 10-99371380-A-AAAGACTGTCTCAAAAAAATAAATAAATAAAAATAAATGAATAAATTATAACAATAG
MyVariant Identifiers: chr10:g.99371380_99371381insAAGACTGTCTCAAAAAAATAAATAAATAAAAATAAATGAATAAATTATAACAATAG (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.97611623_97611624insAAGACTGTCTCAAAAAAATAAATAAATAAAAATAAATGAATAAATTATAACAATAG , CM000672.2:g.97611623_97611624insAAGACTGTCTCAAAAAAATAAATAAATAAAAATAAATGAATAAATTATAACAATAG GRCh38
NC_000010.10:g.99371380_99371381insAAGACTGTCTCAAAAAAATAAATAAATAAAAATAAATGAATAAATTATAACAATAG , CM000672.1:g.99371380_99371381insAAGACTGTCTCAAAAAAATAAATAAATAAAAATAAATGAATAAATTATAACAATAG GRCh37
NC_000010.9:g.99361370_99361371insAAGACTGTCTCAAAAAAATAAATAAATAAAAATAAATGAATAAATTATAACAATAG NCBI36
NG_027922.1:g.32279_32280insAAGACTGTCTCAAAAAAATAAATAAATAAAAATAAATGAATAAATTATAACAATAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000370646.9:c.948_949insAAGACTGTCTCAAAAAAATAAATAAATAAAAATAAATGAATAAATTATAACAATAG MANE Select ENSP00000359680.4:p.Leu317LysfsTer7
ENST00000370646.8:c.948_949insAAGACTGTCTCAAAAAAATAAATAAATAAAAATAAATGAATAAATTATAACAATAG ENSP00000359680.4:p.Leu317LysfsTer7
ENST00000370647.8:c.459_460insAAGACTGTCTCAAAAAAATAAATAAATAAAAATAAATGAATAAATTATAACAATAG ENSP00000359681.4:p.Leu154LysfsTer7
ENST00000370649.3:c.345+9633_345+9634insAAGACTGTCTCAAAAAAATAAATAAATAAAAATAAATGAATAAATTATAACAATAG ENSP00000359683.3:n.345+9633_345+9634insAAGACTGTCTCAAAAAAATAA...
NM_001134670.1:c.459_460insAAGACTGTCTCAAAAAAATAAATAAATAAAAATAAATGAATAAATTATAACAATAG NP_001128142.1:p.Leu154LysfsTer7
NM_138413.3:c.948_949insAAGACTGTCTCAAAAAAATAAATAAATAAAAATAAATGAATAAATTATAACAATAG NP_612422.2:p.Leu317LysfsTer7
NM_138413.4:c.948_949insAAGACTGTCTCAAAAAAATAAATAAATAAAAATAAATGAATAAATTATAACAATAG MANE Select NP_612422.2:p.Leu317LysfsTer7
NM_001134670.2:c.459_460insAAGACTGTCTCAAAAAAATAAATAAATAAAAATAAATGAATAAATTATAACAATAG NP_001128142.1:p.Leu154LysfsTer7
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