Canonical Allele Identifier: CA2580072090

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 1726844
• ClinVar RCV Id: RCV002310528

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13841815_13841816insGTTTGAT , CM000667.2:g.13841815_13841816insGTTTGAT	GRCh38
NC_000005.9:g.13841924_13841925insGTTTGAT , CM000667.1:g.13841924_13841925insGTTTGAT	GRCh37
NC_000005.8:g.13894924_13894925insGTTTGAT	NCBI36
NG_013081.1:g.107665_107666insATCAAAC
NG_013081.2:g.107665_107666insATCAAAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.5360_5361insATCAAAC MANE Select	ENSP00000265104.4:p.Trp1788SerfsTer5
ENST00000681290.1:c.5315_5316insATCAAAC	ENSP00000505288.1:p.Trp1773SerfsTer5
ENST00000265104.4:c.5360_5361insATCAAAC	ENSP00000265104.4:p.Trp1788SerfsTer5
NM_001369.2:c.5360_5361insATCAAAC	NP_001360.1:p.Trp1788SerfsTer5
XM_005248262.2:c.5315_5316insATCAAAC	XP_005248319.1:p.Trp1773SerfsTer5
XM_011513990.1:c.5360_5361insATCAAAC	XP_011512292.1:p.Trp1788SerfsTer5
XR_925598.1:n.5567_5568insATCAAAC
XM_005248262.3:c.5468_5469insATCAAAC	XP_005248319.2:p.Trp1824SerfsTer5
XM_017009177.1:c.5468_5469insATCAAAC	XP_016864666.1:p.Trp1824SerfsTer5
XM_017009178.1:c.4373_4374insATCAAAC	XP_016864667.1:p.Trp1459SerfsTer5
XM_017009179.2:c.4373_4374insATCAAAC	XP_016864668.1:p.Trp1459SerfsTer5
XM_017009180.1:c.5468_5469insATCAAAC	XP_016864669.1:p.Trp1824SerfsTer5
XM_017009181.1:c.5468_5469insATCAAAC	XP_016864670.1:p.Trp1824SerfsTer5
XM_017009182.1:c.5468_5469insATCAAAC	XP_016864671.1:p.Trp1824SerfsTer5
XM_017009183.1:c.5468_5469insATCAAAC	XP_016864672.1:p.Trp1824SerfsTer5
XM_017009184.1:c.5468_5469insATCAAAC	XP_016864673.1:p.Trp1824SerfsTer5
XM_017009185.1:c.557_558insATCAAAC	XP_016864674.1:p.Trp187SerfsTer5
XM_017009186.1:c.110_111insATCAAAC	XP_016864675.1:p.Trp38SerfsTer5
XM_017009187.1:c.5468_5469insATCAAAC	XP_016864676.1:p.Trp1824SerfsTer5
XM_024454388.1:c.4373_4374insATCAAAC	XP_024310156.1:p.Trp1459SerfsTer5
XM_024454389.1:c.3962_3963insATCAAAC	XP_024310157.1:p.Trp1322SerfsTer5
XR_001742034.1:n.5485_5486insATCAAAC
XR_001742035.1:n.5485_5486insATCAAAC
NM_001369.3:c.5360_5361insATCAAAC MANE Select	NP_001360.1:p.Trp1788SerfsTer5