Canonical Allele Identifier: CA261197
Gene: DNAH5 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13894820dup , CM000667.2:g.13894820dup GRCh38
NC_000005.9:g.13894929dup , CM000667.1:g.13894929dup GRCh37
NC_000005.8:g.13947929dup NCBI36
NG_013081.1:g.54661dup
NG_013081.2:g.54661dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000265104.5:c.2261dup MANE Select ENSP00000265104.4:p.Met754IlefsTer5
ENST00000681290.1:c.2216dup ENSP00000505288.1:p.Met739IlefsTer5
ENST00000265104.4:c.2261dup ENSP00000265104.4:p.Met754IlefsTer5
NM_001369.2:c.2261dup NP_001360.1:p.Met754IlefsTer5
XM_005248262.2:c.2216dup XP_005248319.1:p.Met739IlefsTer5
XM_011513990.1:c.2261dup XP_011512292.1:p.Met754IlefsTer5
XR_925598.1:n.2468dup
XM_005248262.3:c.2369dup XP_005248319.2:p.Met790IlefsTer5
XM_017009177.1:c.2369dup XP_016864666.1:p.Met790IlefsTer5
XM_017009178.1:c.1274dup XP_016864667.1:p.Met425IlefsTer5
XM_017009179.2:c.1274dup XP_016864668.1:p.Met425IlefsTer5
XM_017009180.1:c.2369dup XP_016864669.1:p.Met790IlefsTer5
XM_017009181.1:c.2369dup XP_016864670.1:p.Met790IlefsTer5
XM_017009182.1:c.2369dup XP_016864671.1:p.Met790IlefsTer5
XM_017009183.1:c.2369dup XP_016864672.1:p.Met790IlefsTer5
XM_017009184.1:c.2369dup XP_016864673.1:p.Met790IlefsTer5
XM_017009187.1:c.2369dup XP_016864676.1:p.Met790IlefsTer5
XM_024454388.1:c.1274dup XP_024310156.1:p.Met425IlefsTer5
XM_024454389.1:c.863dup XP_024310157.1:p.Met288IlefsTer5
XR_001742034.1:n.2386dup
XR_001742035.1:n.2386dup
NM_001369.3:c.2261dup MANE Select NP_001360.1:p.Met754IlefsTer5
Search 100 bp 5'
Search 100 bp 3'