Canonical Allele Identifier: CA2697547089

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 2709617
• ClinVar RCV Id: RCV003536520

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13793512_13793524del , CM000667.2:g.13793512_13793524del	GRCh38
NC_000005.9:g.13793621_13793633del , CM000667.1:g.13793621_13793633del	GRCh37
NC_000005.8:g.13846621_13846633del	NCBI36
NG_013081.1:g.155963_155975del
NG_013081.2:g.155963_155975del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.8221_8224+9del
ENST00000681290.1:c.8176_8179+9del
ENST00000265104.4:c.8221_8224+9del
NM_001369.2:c.8221_8224+9del
XM_005248262.2:c.8176_8179+9del
XM_011513990.1:c.8221_8224+9del
XR_925598.1:n.8428_8431+9del
XM_005248262.3:c.8329_8332+9del
XM_017009177.1:c.8329_8332+9del
XM_017009178.1:c.7234_7237+9del
XM_017009179.2:c.7234_7237+9del
XM_017009180.1:c.8329_8332+9del
XM_017009181.1:c.8329_8332+9del
XM_017009182.1:c.8329_8332+9del
XM_017009183.1:c.8329_8332+9del
XM_017009184.1:c.8329_8332+9del
XM_017009185.1:c.3418_3421+9del
XM_017009186.1:c.2971_2974+9del
XM_017009188.1:c.2308_2311+9del
XM_024454388.1:c.7234_7237+9del
XM_024454389.1:c.6823_6826+9del
XR_001742034.1:n.8346_8349+9del
XR_001742035.1:n.8346_8349+9del
NM_001369.3:c.8221_8224+9del