Canonical Allele Identifier: CA1528423492

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13753387_13753390delinsATAG , CM000667.2:g.13753387_13753390delinsATAG	GRCh38
NC_000005.9:g.13753496_13753499delinsATAG , CM000667.1:g.13753496_13753499delinsATAG	GRCh37
NC_000005.8:g.13806496_13806499delinsATAG	NCBI36
NG_013081.1:g.196091_196094delinsCTAT
NG_013081.2:g.196091_196094delinsCTAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.10715_10718delinsCTAT MANE Select	ENSP00000265104.4:p.Thr3572=
ENST00000681290.1:c.10670_10673delinsCTAT	ENSP00000505288.1:p.Thr3557=
ENST00000265104.4:c.10715_10718delinsCTAT	ENSP00000265104.4:p.Thr3572=
NM_001369.2:c.10715_10718delinsCTAT	NP_001360.1:p.Thr3572=
XM_005248262.2:c.10670_10673delinsCTAT	XP_005248319.1:p.Thr3557=
XM_005248262.3:c.10823_10826delinsCTAT	XP_005248319.2:p.Thr3608=
XM_017009177.1:c.10823_10826delinsCTAT	XP_016864666.1:p.Thr3608=
XM_017009178.1:c.9728_9731delinsCTAT	XP_016864667.1:p.Thr3243=
XM_017009179.2:c.9728_9731delinsCTAT	XP_016864668.1:p.Thr3243=
XM_017009180.1:c.10823_10826delinsCTAT	XP_016864669.1:p.Thr3608=
XM_017009181.1:c.10823_10826delinsCTAT	XP_016864670.1:p.Thr3608=
XM_017009182.1:c.10823_10826delinsCTAT	XP_016864671.1:p.Thr3608=
XM_017009185.1:c.5912_5915delinsCTAT	XP_016864674.1:p.Thr1971=
XM_017009186.1:c.5465_5468delinsCTAT	XP_016864675.1:p.Thr1822=
XM_017009188.1:c.4802_4805delinsCTAT	XP_016864677.1:p.Thr1601=
XM_024454388.1:c.9728_9731delinsCTAT	XP_024310156.1:p.Thr3243=
XM_024454389.1:c.9317_9320delinsCTAT	XP_024310157.1:p.Thr3106=
NM_001369.3:c.10715_10718delinsCTAT MANE Select	NP_001360.1:p.Thr3572=