Canonical Allele Identifier: CA2739274622

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 2918734
• ClinVar RCV Id: RCV003653101

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13735929del , CM000667.2:g.13735929del	GRCh38
NC_000005.9:g.13736038del , CM000667.1:g.13736038del	GRCh37
NC_000005.8:g.13789038del	NCBI36
NG_013081.1:g.213552del
NG_013081.2:g.213552del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.11459del MANE Select	ENSP00000265104.4:p.Ala3820ValfsTer?
ENST00000681290.1:c.11414del	ENSP00000505288.1:p.Ala3805ValfsTer?
ENST00000265104.4:c.11459del	ENSP00000265104.4:p.Ala3820ValfsTer?
NM_001369.2:c.11459del	NP_001360.1:p.Ala3820ValfsTer?
XM_005248262.2:c.11414del	XP_005248319.1:p.Ala3805ValfsTer?
XM_005248262.3:c.11567del	XP_005248319.2:p.Ala3856ValfsTer?
XM_017009177.1:c.11567del	XP_016864666.1:p.Ala3856ValfsTer?
XM_017009178.1:c.10472del	XP_016864667.1:p.Ala3491ValfsTer?
XM_017009179.2:c.10472del	XP_016864668.1:p.Ala3491ValfsTer?
XM_017009180.1:c.11567del	XP_016864669.1:p.Ala3856ValfsTer?
XM_017009181.1:c.11567del	XP_016864670.1:p.Ala3856ValfsTer?
XM_017009182.1:c.11323del	XP_016864671.1:p.Leu3775TyrfsTer12
XM_017009185.1:c.6656del	XP_016864674.1:p.Ala2219ValfsTer?
XM_017009186.1:c.6209del	XP_016864675.1:p.Ala2070ValfsTer?
XM_017009188.1:c.5546del	XP_016864677.1:p.Ala1849ValfsTer?
XM_024454388.1:c.10472del	XP_024310156.1:p.Ala3491ValfsTer?
XM_024454389.1:c.10061del	XP_024310157.1:p.Ala3354ValfsTer?
NM_001369.3:c.11459del MANE Select	NP_001360.1:p.Ala3820ValfsTer?