Canonical Allele Identifier: CA2739274580

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 2817572
• ClinVar RCV Id: RCV003650850

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13793577_13793578del , CM000667.2:g.13793577_13793578del	GRCh38
NC_000005.9:g.13793686_13793687del , CM000667.1:g.13793686_13793687del	GRCh37
NC_000005.8:g.13846686_13846687del	NCBI36
NG_013081.1:g.155903_155904del
NG_013081.2:g.155903_155904del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.8161_8162del MANE Select	ENSP00000265104.4:p.Lys2721GlufsTer7
ENST00000681290.1:c.8116_8117del	ENSP00000505288.1:p.Lys2706GlufsTer7
ENST00000265104.4:c.8161_8162del	ENSP00000265104.4:p.Lys2721GlufsTer7
NM_001369.2:c.8161_8162del	NP_001360.1:p.Lys2721GlufsTer7
XM_005248262.2:c.8116_8117del	XP_005248319.1:p.Lys2706GlufsTer7
XM_011513990.1:c.8161_8162del	XP_011512292.1:p.Lys2721GlufsTer7
XR_925598.1:n.8368_8369del
XM_005248262.3:c.8269_8270del	XP_005248319.2:p.Lys2757GlufsTer7
XM_017009177.1:c.8269_8270del	XP_016864666.1:p.Lys2757GlufsTer7
XM_017009178.1:c.7174_7175del	XP_016864667.1:p.Lys2392GlufsTer7
XM_017009179.2:c.7174_7175del	XP_016864668.1:p.Lys2392GlufsTer7
XM_017009180.1:c.8269_8270del	XP_016864669.1:p.Lys2757GlufsTer7
XM_017009181.1:c.8269_8270del	XP_016864670.1:p.Lys2757GlufsTer7
XM_017009182.1:c.8269_8270del	XP_016864671.1:p.Lys2757GlufsTer7
XM_017009183.1:c.8269_8270del	XP_016864672.1:p.Lys2757GlufsTer7
XM_017009184.1:c.8269_8270del	XP_016864673.1:p.Lys2757GlufsTer7
XM_017009185.1:c.3358_3359del	XP_016864674.1:p.Lys1120GlufsTer7
XM_017009186.1:c.2911_2912del	XP_016864675.1:p.Lys971GlufsTer7
XM_017009188.1:c.2248_2249del	XP_016864677.1:p.Lys750GlufsTer7
XM_024454388.1:c.7174_7175del	XP_024310156.1:p.Lys2392GlufsTer7
XM_024454389.1:c.6763_6764del	XP_024310157.1:p.Lys2255GlufsTer7
XR_001742034.1:n.8286_8287del
XR_001742035.1:n.8286_8287del
NM_001369.3:c.8161_8162del MANE Select	NP_001360.1:p.Lys2721GlufsTer7