Canonical Allele Identifier: CA2739274649

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13811766dup , CM000667.2:g.13811766dup	GRCh38
NC_000005.9:g.13811875dup , CM000667.1:g.13811875dup	GRCh37
NC_000005.8:g.13864875dup	NCBI36
NG_013081.1:g.137715dup
NG_013081.2:g.137715dup

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.7288dup MANE Select	NP_001360.1:p.Glu2430GlyfsTer?
ENST00000265104.5:c.7288dup MANE Select	ENSP00000265104.4:p.Glu2430GlyfsTer?
NM_001369.2:c.7288dup	NP_001360.1:p.Glu2430GlyfsTer?
ENST00000265104.4:c.7288dup	ENSP00000265104.4:p.Glu2430GlyfsTer?
ENST00000681290.1:c.7243dup	ENSP00000505288.1:p.Glu2415GlyfsTer?
XM_005248262.2:c.7243dup	XP_005248319.1:p.Glu2415GlyfsTer?
XM_005248262.3:c.7396dup	XP_005248319.2:p.Glu2466GlyfsTer?
XM_011513990.1:c.7288dup	XP_011512292.1:p.Glu2430GlyfsTer?
XM_017009177.1:c.7396dup	XP_016864666.1:p.Glu2466GlyfsTer?
XM_017009178.1:c.6301dup	XP_016864667.1:p.Glu2101GlyfsTer?
XM_017009179.2:c.6301dup	XP_016864668.1:p.Glu2101GlyfsTer?
XM_017009180.1:c.7396dup	XP_016864669.1:p.Glu2466GlyfsTer?
XM_017009181.1:c.7396dup	XP_016864670.1:p.Glu2466GlyfsTer?
XM_017009182.1:c.7396dup	XP_016864671.1:p.Glu2466GlyfsTer?
XM_017009183.1:c.7396dup	XP_016864672.1:p.Glu2466GlyfsTer?
XM_017009184.1:c.7396dup	XP_016864673.1:p.Glu2466GlyfsTer?
XM_017009185.1:c.2485dup	XP_016864674.1:p.Glu829GlyfsTer?
XM_017009186.1:c.2038dup	XP_016864675.1:p.Glu680GlyfsTer?
XM_017009187.1:c.7396dup	XP_016864676.1:p.Glu2466GlyfsTer?
XM_017009188.1:c.1375dup	XP_016864677.1:p.Glu459GlyfsTer?
XM_024454388.1:c.6301dup	XP_024310156.1:p.Glu2101GlyfsTer?
XM_024454389.1:c.5890dup	XP_024310157.1:p.Glu1964GlyfsTer?
XR_001742034.1:n.7413dup
XR_001742035.1:n.7413dup
XR_925598.1:n.7495dup