Canonical Allele Identifier: CA2580072083

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13862683_13862684del , CM000667.2:g.13862683_13862684del	GRCh38
NC_000005.9:g.13862792_13862793del , CM000667.1:g.13862792_13862793del	GRCh37
NC_000005.8:g.13915792_13915793del	NCBI36
NG_013081.1:g.86797_86798del
NG_013081.2:g.86797_86798del

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.4660_4661del MANE Select	NP_001360.1:p.Glu1554MetfsTer4
ENST00000265104.5:c.4660_4661del MANE Select	ENSP00000265104.4:p.Glu1554MetfsTer4
NM_001369.2:c.4660_4661del	NP_001360.1:p.Glu1554MetfsTer4
ENST00000265104.4:c.4660_4661del	ENSP00000265104.4:p.Glu1554MetfsTer4
ENST00000681290.1:c.4615_4616del	ENSP00000505288.1:p.Glu1539MetfsTer4
XM_005248262.2:c.4615_4616del	XP_005248319.1:p.Glu1539MetfsTer4
XM_005248262.3:c.4768_4769del	XP_005248319.2:p.Glu1590MetfsTer4
XM_011513990.1:c.4660_4661del	XP_011512292.1:p.Glu1554MetfsTer4
XM_017009177.1:c.4768_4769del	XP_016864666.1:p.Glu1590MetfsTer4
XM_017009178.1:c.3673_3674del	XP_016864667.1:p.Glu1225MetfsTer4
XM_017009179.2:c.3673_3674del	XP_016864668.1:p.Glu1225MetfsTer4
XM_017009180.1:c.4768_4769del	XP_016864669.1:p.Glu1590MetfsTer4
XM_017009181.1:c.4768_4769del	XP_016864670.1:p.Glu1590MetfsTer4
XM_017009182.1:c.4768_4769del	XP_016864671.1:p.Glu1590MetfsTer4
XM_017009183.1:c.4768_4769del	XP_016864672.1:p.Glu1590MetfsTer4
XM_017009184.1:c.4768_4769del	XP_016864673.1:p.Glu1590MetfsTer4
XM_017009187.1:c.4768_4769del	XP_016864676.1:p.Glu1590MetfsTer4
XM_024454388.1:c.3673_3674del	XP_024310156.1:p.Glu1225MetfsTer4
XM_024454389.1:c.3262_3263del	XP_024310157.1:p.Glu1088MetfsTer4
XR_001742034.1:n.4785_4786del
XR_001742035.1:n.4785_4786del
XR_925598.1:n.4867_4868del