Canonical Allele Identifier: CA2580072354

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 1916263
• ClinVar RCV Id: RCV002616892

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13770749del , CM000667.2:g.13770749del	GRCh38
NC_000005.9:g.13770858del , CM000667.1:g.13770858del	GRCh37
NC_000005.8:g.13823858del	NCBI36
NG_013081.1:g.178733del
NG_013081.2:g.178733del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9605+1del
ENST00000681290.1:c.9560+1del
ENST00000265104.4:c.9605+1del
ENST00000504001.3:n.317+1del
NM_001369.2:c.9605+1del
XM_005248262.2:c.9560+1del
XM_005248262.3:c.9713+1del
XM_017009177.1:c.9713+1del
XM_017009178.1:c.8618+1del
XM_017009179.2:c.8618+1del
XM_017009180.1:c.9713+1del
XM_017009181.1:c.9713+1del
XM_017009182.1:c.9713+1del
XM_017009183.1:c.9714del	XP_016864672.1:p.Arg3238SerfsTer?
XM_017009185.1:c.4802+1del
XM_017009186.1:c.4355+1del
XM_017009188.1:c.3692+1del
XM_024454388.1:c.8618+1del
XM_024454389.1:c.8207+1del
NM_001369.3:c.9605+1del