Canonical Allele Identifier: CA2819317778
Gene: MIOX HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50489812_50489815del , CM000684.2:g.50489812_50489815del GRCh38
NC_000022.10:g.50928241_50928244del , CM000684.1:g.50928241_50928244del GRCh37
NC_000022.9:g.49275107_49275110del NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000216075.11:c.814_817del MANE Select ENSP00000216075.6:p.Gln272GlyfsTer11
ENST00000216075.10:c.814_817del ENSP00000216075.6:p.Gln272GlyfsTer11
ENST00000395732.7:c.800_803del ENSP00000379081.3:p.Pro267ArgfsTer14
ENST00000395733.7:c.683_686del ENSP00000379082.3:p.Pro228ArgfsTer14
ENST00000451761.1:c.754_757del ENSP00000409894.1:p.Gln252GlyfsTer11
NM_017584.5:c.814_817del NP_060054.4:p.Gln272GlyfsTer11
XM_005261925.3:c.676_679del XP_005261982.1:p.Gln226GlyfsTer11
XR_244455.2:n.3310_3313del
XM_005261925.4:c.676_679del XP_005261982.1:p.Gln226GlyfsTer11
NM_017584.6:c.814_817del MANE Select NP_060054.4:p.Gln272GlyfsTer11
Search 100 bp 5'
Search 100 bp 3'