Canonical Allele Identifier: CA1528458054

Gene: DNAH5

Linked Data

• dbSNP Id: rs1763350276

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13829518_13829529del , CM000667.2:g.13829518_13829529del	GRCh38
NC_000005.9:g.13829627_13829638del , CM000667.1:g.13829627_13829638del	GRCh37
NC_000005.8:g.13882627_13882638del	NCBI36
NG_013081.1:g.119952_119963del
NG_013081.2:g.119952_119963del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683090.1:n.1356_1367del
ENST00000265104.5:c.6425_6436del MANE Select	ENSP00000265104.4:p.Glu2142_Ser2146delinsAla
ENST00000681290.1:c.6380_6391del	ENSP00000505288.1:p.Glu2127_Ser2131delinsAla
ENST00000265104.4:c.6425_6436del	ENSP00000265104.4:p.Glu2142_Ser2146delinsAla
NM_001369.2:c.6425_6436del	NP_001360.1:p.Glu2142_Ser2146delinsAla
XM_005248262.2:c.6380_6391del	XP_005248319.1:p.Glu2127_Ser2131delinsAla
XM_011513990.1:c.6425_6436del	XP_011512292.1:p.Glu2142_Ser2146delinsAla
XR_925598.1:n.6632_6643del
XM_005248262.3:c.6533_6544del	XP_005248319.2:p.Glu2178_Ser2182delinsAla
XM_017009177.1:c.6533_6544del	XP_016864666.1:p.Glu2178_Ser2182delinsAla
XM_017009178.1:c.5438_5449del	XP_016864667.1:p.Glu1813_Ser1817delinsAla
XM_017009179.2:c.5438_5449del	XP_016864668.1:p.Glu1813_Ser1817delinsAla
XM_017009180.1:c.6533_6544del	XP_016864669.1:p.Glu2178_Ser2182delinsAla
XM_017009181.1:c.6533_6544del	XP_016864670.1:p.Glu2178_Ser2182delinsAla
XM_017009182.1:c.6533_6544del	XP_016864671.1:p.Glu2178_Ser2182delinsAla
XM_017009183.1:c.6533_6544del	XP_016864672.1:p.Glu2178_Ser2182delinsAla
XM_017009184.1:c.6533_6544del	XP_016864673.1:p.Glu2178_Ser2182delinsAla
XM_017009185.1:c.1622_1633del	XP_016864674.1:p.Glu541_Ser545delinsAla
XM_017009186.1:c.1175_1186del	XP_016864675.1:p.Glu392_Ser396delinsAla
XM_017009187.1:c.6533_6544del	XP_016864676.1:p.Glu2178_Ser2182delinsAla
XM_017009188.1:c.512_523del	XP_016864677.1:p.Glu171_Ser175delinsAla
XM_024454388.1:c.5438_5449del	XP_024310156.1:p.Glu1813_Ser1817delinsAla
XM_024454389.1:c.5027_5038del	XP_024310157.1:p.Glu1676_Ser1680delinsAla
XR_001742034.1:n.6550_6561del
XR_001742035.1:n.6550_6561del
NM_001369.3:c.6425_6436del MANE Select	NP_001360.1:p.Glu2142_Ser2146delinsAla