Canonical Allele Identifier: CA2580072195

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 2085099
• ClinVar RCV Id: RCV003011482
• gnomAD v4: 5-13769051-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13769052del , CM000667.2:g.13769052del	GRCh38
NC_000005.9:g.13769161del , CM000667.1:g.13769161del	GRCh37
NC_000005.8:g.13822161del	NCBI36
NG_013081.1:g.180429del
NG_013081.2:g.180429del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9805del MANE Select	ENSP00000265104.4:p.Ile3269LeufsTer23
ENST00000681290.1:c.9760del	ENSP00000505288.1:p.Ile3254LeufsTer23
ENST00000265104.4:c.9805del	ENSP00000265104.4:p.Ile3269LeufsTer23
ENST00000504001.3:n.517del
NM_001369.2:c.9805del	NP_001360.1:p.Ile3269LeufsTer23
XM_005248262.2:c.9760del	XP_005248319.1:p.Ile3254LeufsTer23
XM_005248262.3:c.9913del	XP_005248319.2:p.Ile3305LeufsTer23
XM_017009177.1:c.9913del	XP_016864666.1:p.Ile3305LeufsTer23
XM_017009178.1:c.8818del	XP_016864667.1:p.Ile2940LeufsTer23
XM_017009179.2:c.8818del	XP_016864668.1:p.Ile2940LeufsTer23
XM_017009180.1:c.9913del	XP_016864669.1:p.Ile3305LeufsTer23
XM_017009181.1:c.9913del	XP_016864670.1:p.Ile3305LeufsTer23
XM_017009182.1:c.9913del	XP_016864671.1:p.Ile3305LeufsTer23
XM_017009185.1:c.5002del	XP_016864674.1:p.Ile1668LeufsTer23
XM_017009186.1:c.4555del	XP_016864675.1:p.Ile1519LeufsTer23
XM_017009188.1:c.3892del	XP_016864677.1:p.Ile1298LeufsTer23
XM_024454388.1:c.8818del	XP_024310156.1:p.Ile2940LeufsTer23
XM_024454389.1:c.8407del	XP_024310157.1:p.Ile2803LeufsTer23
NM_001369.3:c.9805del MANE Select	NP_001360.1:p.Ile3269LeufsTer23