Canonical Allele Identifier: CA273135
Gene: DNAH5 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13708267_13708270del , CM000667.2:g.13708267_13708270del GRCh38
NC_000005.9:g.13708376_13708379del , CM000667.1:g.13708376_13708379del GRCh37
NC_000005.8:g.13761376_13761379del NCBI36
NG_013081.1:g.241214_241217del
NG_013081.2:g.241214_241217del

Transcript Alleles

HGVS Amino-acid Change
ENST00000683611.1:n.527_530del
ENST00000265104.5:c.13194_13197del MANE Select ENSP00000265104.4:p.Asp4398GlufsTer16
ENST00000681290.1:c.13149_13152del ENSP00000505288.1:p.Asp4383GlufsTer16
ENST00000265104.4:c.13194_13197del ENSP00000265104.4:p.Asp4398GlufsTer16
NM_001369.2:c.13194_13197del NP_001360.1:p.Asp4398GlufsTer16
XM_005248262.2:c.13149_13152del XP_005248319.1:p.Asp4383GlufsTer16
XM_005248262.3:c.13302_13305del XP_005248319.2:p.Asp4434GlufsTer16
XM_017009177.1:c.12882_12885del XP_016864666.1:p.Asp4294GlufsTer16
XM_017009178.1:c.12207_12210del XP_016864667.1:p.Asp4069GlufsTer16
XM_017009179.2:c.12207_12210del XP_016864668.1:p.Asp4069GlufsTer16
XM_017009185.1:c.8391_8394del XP_016864674.1:p.Asp2797GlufsTer16
XM_017009186.1:c.7944_7947del XP_016864675.1:p.Asp2648GlufsTer16
XM_017009188.1:c.7281_7284del XP_016864677.1:p.Asp2427GlufsTer16
XM_024454388.1:c.12207_12210del XP_024310156.1:p.Asp4069GlufsTer16
XM_024454389.1:c.11796_11799del XP_024310157.1:p.Asp3932GlufsTer16
NM_001369.3:c.13194_13197del MANE Select NP_001360.1:p.Asp4398GlufsTer16
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