Canonical Allele Identifier: CA2580072141

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 1725577
• ClinVar RCV Id: RCV002309261

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13752230del , CM000667.2:g.13752230del	GRCh38
NC_000005.9:g.13752339del , CM000667.1:g.13752339del	GRCh37
NC_000005.8:g.13805339del	NCBI36
NG_013081.1:g.197252del
NG_013081.2:g.197252del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.10933del MANE Select	ENSP00000265104.4:p.Arg3645GlyfsTer12
ENST00000681290.1:c.10888del	ENSP00000505288.1:p.Arg3630GlyfsTer12
ENST00000265104.4:c.10933del	ENSP00000265104.4:p.Arg3645GlyfsTer12
NM_001369.2:c.10933del	NP_001360.1:p.Arg3645GlyfsTer12
XM_005248262.2:c.10888del	XP_005248319.1:p.Arg3630GlyfsTer12
XM_005248262.3:c.11041del	XP_005248319.2:p.Arg3681GlyfsTer12
XM_017009177.1:c.11041del	XP_016864666.1:p.Arg3681GlyfsTer12
XM_017009178.1:c.9946del	XP_016864667.1:p.Arg3316GlyfsTer12
XM_017009179.2:c.9946del	XP_016864668.1:p.Arg3316GlyfsTer12
XM_017009180.1:c.11041del	XP_016864669.1:p.Arg3681GlyfsTer12
XM_017009181.1:c.11041del	XP_016864670.1:p.Arg3681GlyfsTer12
XM_017009182.1:c.11041del	XP_016864671.1:p.Arg3681GlyfsTer12
XM_017009185.1:c.6130del	XP_016864674.1:p.Arg2044GlyfsTer12
XM_017009186.1:c.5683del	XP_016864675.1:p.Arg1895GlyfsTer12
XM_017009188.1:c.5020del	XP_016864677.1:p.Arg1674GlyfsTer12
XM_024454388.1:c.9946del	XP_024310156.1:p.Arg3316GlyfsTer12
XM_024454389.1:c.9535del	XP_024310157.1:p.Arg3179GlyfsTer12
NM_001369.3:c.10933del MANE Select	NP_001360.1:p.Arg3645GlyfsTer12