Canonical Allele Identifier: CA1528458090

Gene: DNAH5

Linked Data

• dbSNP Id: rs1763362846

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13829589del , CM000667.2:g.13829589del	GRCh38
NC_000005.9:g.13829698del , CM000667.1:g.13829698del	GRCh37
NC_000005.8:g.13882698del	NCBI36
NG_013081.1:g.119892del
NG_013081.2:g.119892del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683090.1:n.1296del
ENST00000265104.5:c.6365del MANE Select	ENSP00000265104.4:p.Cys2122LeufsTer?
ENST00000681290.1:c.6320del	ENSP00000505288.1:p.Cys2107LeufsTer?
ENST00000265104.4:c.6365del	ENSP00000265104.4:p.Cys2122LeufsTer?
NM_001369.2:c.6365del	NP_001360.1:p.Cys2122LeufsTer?
XM_005248262.2:c.6320del	XP_005248319.1:p.Cys2107LeufsTer?
XM_011513990.1:c.6365del	XP_011512292.1:p.Cys2122LeufsTer?
XR_925598.1:n.6572del
XM_005248262.3:c.6473del	XP_005248319.2:p.Cys2158LeufsTer?
XM_017009177.1:c.6473del	XP_016864666.1:p.Cys2158LeufsTer?
XM_017009178.1:c.5378del	XP_016864667.1:p.Cys1793LeufsTer?
XM_017009179.2:c.5378del	XP_016864668.1:p.Cys1793LeufsTer?
XM_017009180.1:c.6473del	XP_016864669.1:p.Cys2158LeufsTer?
XM_017009181.1:c.6473del	XP_016864670.1:p.Cys2158LeufsTer?
XM_017009182.1:c.6473del	XP_016864671.1:p.Cys2158LeufsTer?
XM_017009183.1:c.6473del	XP_016864672.1:p.Cys2158LeufsTer?
XM_017009184.1:c.6473del	XP_016864673.1:p.Cys2158LeufsTer?
XM_017009185.1:c.1562del	XP_016864674.1:p.Cys521LeufsTer?
XM_017009186.1:c.1115del	XP_016864675.1:p.Cys372LeufsTer?
XM_017009187.1:c.6473del	XP_016864676.1:p.Cys2158LeufsTer?
XM_017009188.1:c.452del	XP_016864677.1:p.Cys151LeufsTer?
XM_024454388.1:c.5378del	XP_024310156.1:p.Cys1793LeufsTer?
XM_024454389.1:c.4967del	XP_024310157.1:p.Cys1656LeufsTer?
XR_001742034.1:n.6490del
XR_001742035.1:n.6490del
NM_001369.3:c.6365del MANE Select	NP_001360.1:p.Cys2122LeufsTer?