Canonical Allele Identifier: CA2580613522

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 1724755
• ClinVar RCV Id: RCV002310023

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13844929_13844930del , CM000667.2:g.13844929_13844930del	GRCh38
NC_000005.9:g.13845038_13845039del , CM000667.1:g.13845038_13845039del	GRCh37
NC_000005.8:g.13898038_13898039del	NCBI36
NG_013081.1:g.104554_104555del
NG_013081.2:g.104554_104555del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.5181_5182del MANE Select	ENSP00000265104.4:p.Glu1727AspfsTer20
ENST00000681290.1:c.5136_5137del	ENSP00000505288.1:p.Glu1712AspfsTer20
ENST00000265104.4:c.5181_5182del	ENSP00000265104.4:p.Glu1727AspfsTer20
NM_001369.2:c.5181_5182del	NP_001360.1:p.Glu1727AspfsTer20
XM_005248262.2:c.5136_5137del	XP_005248319.1:p.Glu1712AspfsTer20
XM_011513990.1:c.5181_5182del	XP_011512292.1:p.Glu1727AspfsTer20
XR_925598.1:n.5388_5389del
XM_005248262.3:c.5289_5290del	XP_005248319.2:p.Glu1763AspfsTer20
XM_017009177.1:c.5289_5290del	XP_016864666.1:p.Glu1763AspfsTer20
XM_017009178.1:c.4194_4195del	XP_016864667.1:p.Glu1398AspfsTer20
XM_017009179.2:c.4194_4195del	XP_016864668.1:p.Glu1398AspfsTer20
XM_017009180.1:c.5289_5290del	XP_016864669.1:p.Glu1763AspfsTer20
XM_017009181.1:c.5289_5290del	XP_016864670.1:p.Glu1763AspfsTer20
XM_017009182.1:c.5289_5290del	XP_016864671.1:p.Glu1763AspfsTer20
XM_017009183.1:c.5289_5290del	XP_016864672.1:p.Glu1763AspfsTer20
XM_017009184.1:c.5289_5290del	XP_016864673.1:p.Glu1763AspfsTer20
XM_017009185.1:c.378_379del	XP_016864674.1:p.Glu126AspfsTer20
XM_017009186.1:c.22-3023_22-3022del	XP_016864675.1:n.22-3023_22-3022del
XM_017009187.1:c.5289_5290del	XP_016864676.1:p.Glu1763AspfsTer20
XM_024454388.1:c.4194_4195del	XP_024310156.1:p.Glu1398AspfsTer20
XM_024454389.1:c.3783_3784del	XP_024310157.1:p.Glu1261AspfsTer20
XR_001742034.1:n.5306_5307del
XR_001742035.1:n.5306_5307del
NM_001369.3:c.5181_5182del MANE Select	NP_001360.1:p.Glu1727AspfsTer20