Canonical Allele Identifier: CA1528476487

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13870940_13870941delinsAG , CM000667.2:g.13870940_13870941delinsAG	GRCh38
NC_000005.9:g.13871049_13871050delinsAG , CM000667.1:g.13871049_13871050delinsAG	GRCh37
NC_000005.8:g.13924049_13924050delinsAG	NCBI36
NG_013081.1:g.78540_78541delinsCT
NG_013081.2:g.78540_78541delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.3660_3661delinsCT MANE Select	ENSP00000265104.4:p.His1220=
ENST00000681290.1:c.3615_3616delinsCT	ENSP00000505288.1:p.His1205=
ENST00000265104.4:c.3660_3661delinsCT	ENSP00000265104.4:p.His1220=
NM_001369.2:c.3660_3661delinsCT	NP_001360.1:p.His1220=
XM_005248262.2:c.3615_3616delinsCT	XP_005248319.1:p.His1205=
XM_011513990.1:c.3660_3661delinsCT	XP_011512292.1:p.His1220=
XR_925598.1:n.3867_3868delinsCT
XM_005248262.3:c.3768_3769delinsCT	XP_005248319.2:p.His1256=
XM_017009177.1:c.3768_3769delinsCT	XP_016864666.1:p.His1256=
XM_017009178.1:c.2673_2674delinsCT	XP_016864667.1:p.His891=
XM_017009179.2:c.2673_2674delinsCT	XP_016864668.1:p.His891=
XM_017009180.1:c.3768_3769delinsCT	XP_016864669.1:p.His1256=
XM_017009181.1:c.3768_3769delinsCT	XP_016864670.1:p.His1256=
XM_017009182.1:c.3768_3769delinsCT	XP_016864671.1:p.His1256=
XM_017009183.1:c.3768_3769delinsCT	XP_016864672.1:p.His1256=
XM_017009184.1:c.3768_3769delinsCT	XP_016864673.1:p.His1256=
XM_017009187.1:c.3768_3769delinsCT	XP_016864676.1:p.His1256=
XM_024454388.1:c.2673_2674delinsCT	XP_024310156.1:p.His891=
XM_024454389.1:c.2262_2263delinsCT	XP_024310157.1:p.His754=
XR_001742034.1:n.3785_3786delinsCT
XR_001742035.1:n.3785_3786delinsCT
NM_001369.3:c.3660_3661delinsCT MANE Select	NP_001360.1:p.His1220=