Canonical Allele Identifier: CA2765347527

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13753475_13753477del , CM000667.2:g.13753475_13753477del	GRCh38
NC_000005.9:g.13753584_13753586del , CM000667.1:g.13753584_13753586del	GRCh37
NC_000005.8:g.13806584_13806586del	NCBI36
NG_013081.1:g.196004_196006del
NG_013081.2:g.196004_196006del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.10628_10630del MANE Select	ENSP00000265104.4:p.Leu3543_Asn3544delinsTyr
ENST00000681290.1:c.10583_10585del	ENSP00000505288.1:p.Leu3528_Asn3529delinsTyr
ENST00000265104.4:c.10628_10630del	ENSP00000265104.4:p.Leu3543_Asn3544delinsTyr
NM_001369.2:c.10628_10630del	NP_001360.1:p.Leu3543_Asn3544delinsTyr
XM_005248262.2:c.10583_10585del	XP_005248319.1:p.Leu3528_Asn3529delinsTyr
XM_005248262.3:c.10736_10738del	XP_005248319.2:p.Leu3579_Asn3580delinsTyr
XM_017009177.1:c.10736_10738del	XP_016864666.1:p.Leu3579_Asn3580delinsTyr
XM_017009178.1:c.9641_9643del	XP_016864667.1:p.Leu3214_Asn3215delinsTyr
XM_017009179.2:c.9641_9643del	XP_016864668.1:p.Leu3214_Asn3215delinsTyr
XM_017009180.1:c.10736_10738del	XP_016864669.1:p.Leu3579_Asn3580delinsTyr
XM_017009181.1:c.10736_10738del	XP_016864670.1:p.Leu3579_Asn3580delinsTyr
XM_017009182.1:c.10736_10738del	XP_016864671.1:p.Leu3579_Asn3580delinsTyr
XM_017009185.1:c.5825_5827del	XP_016864674.1:p.Leu1942_Asn1943delinsTyr
XM_017009186.1:c.5378_5380del	XP_016864675.1:p.Leu1793_Asn1794delinsTyr
XM_017009188.1:c.4715_4717del	XP_016864677.1:p.Leu1572_Asn1573delinsTyr
XM_024454388.1:c.9641_9643del	XP_024310156.1:p.Leu3214_Asn3215delinsTyr
XM_024454389.1:c.9230_9232del	XP_024310157.1:p.Leu3077_Asn3078delinsTyr
NM_001369.3:c.10628_10630del MANE Select	NP_001360.1:p.Leu3543_Asn3544delinsTyr