Canonical Allele Identifier: CA2673271400

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13794049-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13794050dup , CM000667.2:g.13794050dup	GRCh38
NC_000005.9:g.13794159dup , CM000667.1:g.13794159dup	GRCh37
NC_000005.8:g.13847159dup	NCBI36
NG_013081.1:g.155431dup
NG_013081.2:g.155431dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.7896dup MANE Select	ENSP00000265104.4:p.Glu2633ArgfsTer6
ENST00000681290.1:c.7851dup	ENSP00000505288.1:p.Glu2618ArgfsTer6
ENST00000265104.4:c.7896dup	ENSP00000265104.4:p.Glu2633ArgfsTer6
NM_001369.2:c.7896dup	NP_001360.1:p.Glu2633ArgfsTer6
XM_005248262.2:c.7851dup	XP_005248319.1:p.Glu2618ArgfsTer6
XM_011513990.1:c.7896dup	XP_011512292.1:p.Glu2633ArgfsTer6
XR_925598.1:n.8103dup
XM_005248262.3:c.8004dup	XP_005248319.2:p.Glu2669ArgfsTer6
XM_017009177.1:c.8004dup	XP_016864666.1:p.Glu2669ArgfsTer6
XM_017009178.1:c.6909dup	XP_016864667.1:p.Glu2304ArgfsTer6
XM_017009179.2:c.6909dup	XP_016864668.1:p.Glu2304ArgfsTer6
XM_017009180.1:c.8004dup	XP_016864669.1:p.Glu2669ArgfsTer6
XM_017009181.1:c.8004dup	XP_016864670.1:p.Glu2669ArgfsTer6
XM_017009182.1:c.8004dup	XP_016864671.1:p.Glu2669ArgfsTer6
XM_017009183.1:c.8004dup	XP_016864672.1:p.Glu2669ArgfsTer6
XM_017009184.1:c.8004dup	XP_016864673.1:p.Glu2669ArgfsTer6
XM_017009185.1:c.3093dup	XP_016864674.1:p.Glu1032ArgfsTer6
XM_017009186.1:c.2646dup	XP_016864675.1:p.Glu883ArgfsTer6
XM_017009187.1:c.8039dup	XP_016864676.1:p.Ter2680=
XM_017009188.1:c.1983dup	XP_016864677.1:p.Glu662ArgfsTer6
XM_024454388.1:c.6909dup	XP_024310156.1:p.Glu2304ArgfsTer6
XM_024454389.1:c.6498dup	XP_024310157.1:p.Glu2167ArgfsTer6
XR_001742034.1:n.8021dup
XR_001742035.1:n.8021dup
NM_001369.3:c.7896dup MANE Select	NP_001360.1:p.Glu2633ArgfsTer6