Canonical Allele Identifier: CA1528440946

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13792056_13792057delinsCT , CM000667.2:g.13792056_13792057delinsCT	GRCh38
NC_000005.9:g.13792165_13792166delinsCT , CM000667.1:g.13792165_13792166delinsCT	GRCh37
NC_000005.8:g.13845165_13845166delinsCT	NCBI36
NG_013081.1:g.157424_157425delinsAG
NG_013081.2:g.157424_157425delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.8385_8386delinsAG MANE Select	ENSP00000265104.4:p.Arg2795=
ENST00000681290.1:c.8340_8341delinsAG	ENSP00000505288.1:p.Arg2780=
ENST00000265104.4:c.8385_8386delinsAG	ENSP00000265104.4:p.Arg2795=
NM_001369.2:c.8385_8386delinsAG	NP_001360.1:p.Arg2795=
XM_005248262.2:c.8340_8341delinsAG	XP_005248319.1:p.Arg2780=
XM_011513990.1:c.8385_8386delinsAG	XP_011512292.1:p.Arg2795=
XR_925598.1:n.8592_8593delinsAG
XM_005248262.3:c.8493_8494delinsAG	XP_005248319.2:p.Arg2831=
XM_017009177.1:c.8493_8494delinsAG	XP_016864666.1:p.Arg2831=
XM_017009178.1:c.7398_7399delinsAG	XP_016864667.1:p.Arg2466=
XM_017009179.2:c.7398_7399delinsAG	XP_016864668.1:p.Arg2466=
XM_017009180.1:c.8493_8494delinsAG	XP_016864669.1:p.Arg2831=
XM_017009181.1:c.8493_8494delinsAG	XP_016864670.1:p.Arg2831=
XM_017009182.1:c.8493_8494delinsAG	XP_016864671.1:p.Arg2831=
XM_017009183.1:c.8493_8494delinsAG	XP_016864672.1:p.Arg2831=
XM_017009184.1:c.8493_8494delinsAG	XP_016864673.1:p.Arg2831=
XM_017009185.1:c.3582_3583delinsAG	XP_016864674.1:p.Arg1194=
XM_017009186.1:c.3135_3136delinsAG	XP_016864675.1:p.Arg1045=
XM_017009188.1:c.2472_2473delinsAG	XP_016864677.1:p.Arg824=
XM_024454388.1:c.7398_7399delinsAG	XP_024310156.1:p.Arg2466=
XM_024454389.1:c.6987_6988delinsAG	XP_024310157.1:p.Arg2329=
XR_001742034.1:n.8510_8511delinsAG
XR_001742035.1:n.8510_8511delinsAG
NM_001369.3:c.8385_8386delinsAG MANE Select	NP_001360.1:p.Arg2795=