Canonical Allele Identifier: CA2580072162

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 1725862
• ClinVar RCV Id: RCV002306833

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13885986_13885987del , CM000667.2:g.13885986_13885987del	GRCh38
NC_000005.9:g.13886095_13886096del , CM000667.1:g.13886095_13886096del	GRCh37
NC_000005.8:g.13939095_13939096del	NCBI36
NG_013081.1:g.63494_63495del
NG_013081.2:g.63494_63495del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.2720_2721del MANE Select	ENSP00000265104.4:p.Val907GlufsTer5
ENST00000681290.1:c.2675_2676del	ENSP00000505288.1:p.Val892GlufsTer5
ENST00000265104.4:c.2720_2721del	ENSP00000265104.4:p.Val907GlufsTer5
NM_001369.2:c.2720_2721del	NP_001360.1:p.Val907GlufsTer5
XM_005248262.2:c.2675_2676del	XP_005248319.1:p.Val892GlufsTer5
XM_011513990.1:c.2720_2721del	XP_011512292.1:p.Val907GlufsTer5
XR_925598.1:n.2927_2928del
XM_005248262.3:c.2828_2829del	XP_005248319.2:p.Val943GlufsTer5
XM_017009177.1:c.2828_2829del	XP_016864666.1:p.Val943GlufsTer5
XM_017009178.1:c.1733_1734del	XP_016864667.1:p.Val578GlufsTer5
XM_017009179.2:c.1733_1734del	XP_016864668.1:p.Val578GlufsTer5
XM_017009180.1:c.2828_2829del	XP_016864669.1:p.Val943GlufsTer5
XM_017009181.1:c.2828_2829del	XP_016864670.1:p.Val943GlufsTer5
XM_017009182.1:c.2828_2829del	XP_016864671.1:p.Val943GlufsTer5
XM_017009183.1:c.2828_2829del	XP_016864672.1:p.Val943GlufsTer5
XM_017009184.1:c.2828_2829del	XP_016864673.1:p.Val943GlufsTer5
XM_017009187.1:c.2828_2829del	XP_016864676.1:p.Val943GlufsTer5
XM_024454388.1:c.1733_1734del	XP_024310156.1:p.Val578GlufsTer5
XM_024454389.1:c.1322_1323del	XP_024310157.1:p.Val441GlufsTer5
XR_001742034.1:n.2845_2846del
XR_001742035.1:n.2845_2846del
NM_001369.3:c.2720_2721del MANE Select	NP_001360.1:p.Val907GlufsTer5