Canonical Allele Identifier: CA2697547064

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 2759063
• ClinVar RCV Id: RCV003536950

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13844906del , CM000667.2:g.13844906del	GRCh38
NC_000005.9:g.13845015del , CM000667.1:g.13845015del	GRCh37
NC_000005.8:g.13898015del	NCBI36
NG_013081.1:g.104575del
NG_013081.2:g.104575del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.5202del MANE Select	ENSP00000265104.4:p.Ser1735ProfsTer9
ENST00000681290.1:c.5157del	ENSP00000505288.1:p.Ser1720ProfsTer9
ENST00000265104.4:c.5202del	ENSP00000265104.4:p.Ser1735ProfsTer9
NM_001369.2:c.5202del	NP_001360.1:p.Ser1735ProfsTer9
XM_005248262.2:c.5157del	XP_005248319.1:p.Ser1720ProfsTer9
XM_011513990.1:c.5202del	XP_011512292.1:p.Ser1735ProfsTer9
XR_925598.1:n.5409del
XM_005248262.3:c.5310del	XP_005248319.2:p.Ser1771ProfsTer9
XM_017009177.1:c.5310del	XP_016864666.1:p.Ser1771ProfsTer9
XM_017009178.1:c.4215del	XP_016864667.1:p.Ser1406ProfsTer9
XM_017009179.2:c.4215del	XP_016864668.1:p.Ser1406ProfsTer9
XM_017009180.1:c.5310del	XP_016864669.1:p.Ser1771ProfsTer9
XM_017009181.1:c.5310del	XP_016864670.1:p.Ser1771ProfsTer9
XM_017009182.1:c.5310del	XP_016864671.1:p.Ser1771ProfsTer9
XM_017009183.1:c.5310del	XP_016864672.1:p.Ser1771ProfsTer9
XM_017009184.1:c.5310del	XP_016864673.1:p.Ser1771ProfsTer9
XM_017009185.1:c.399del	XP_016864674.1:p.Ser134ProfsTer9
XM_017009186.1:c.22-3002del	XP_016864675.1:n.22-3002del
XM_017009187.1:c.5310del	XP_016864676.1:p.Ser1771ProfsTer9
XM_024454388.1:c.4215del	XP_024310156.1:p.Ser1406ProfsTer9
XM_024454389.1:c.3804del	XP_024310157.1:p.Ser1269ProfsTer9
XR_001742034.1:n.5327del
XR_001742035.1:n.5327del
NM_001369.3:c.5202del MANE Select	NP_001360.1:p.Ser1735ProfsTer9