Canonical Allele Identifier: CA2580072033

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 1724601
• ClinVar RCV Id: RCV002309869

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13844909_13844910delinsA , CM000667.2:g.13844909_13844910delinsA	GRCh38
NC_000005.9:g.13845018_13845019delinsA , CM000667.1:g.13845018_13845019delinsA	GRCh37
NC_000005.8:g.13898018_13898019delinsA	NCBI36
NG_013081.1:g.104571_104572delinsT
NG_013081.2:g.104571_104572delinsT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.5198_5199delinsT MANE Select	ENSP00000265104.4:p.Ser1733LeufsTer11
ENST00000681290.1:c.5153_5154delinsT	ENSP00000505288.1:p.Ser1718LeufsTer11
ENST00000265104.4:c.5198_5199delinsT	ENSP00000265104.4:p.Ser1733LeufsTer11
NM_001369.2:c.5198_5199delinsT	NP_001360.1:p.Ser1733LeufsTer11
XM_005248262.2:c.5153_5154delinsT	XP_005248319.1:p.Ser1718LeufsTer11
XM_011513990.1:c.5198_5199delinsT	XP_011512292.1:p.Ser1733LeufsTer11
XR_925598.1:n.5405_5406delinsT
XM_005248262.3:c.5306_5307delinsT	XP_005248319.2:p.Ser1769LeufsTer11
XM_017009177.1:c.5306_5307delinsT	XP_016864666.1:p.Ser1769LeufsTer11
XM_017009178.1:c.4211_4212delinsT	XP_016864667.1:p.Ser1404LeufsTer11
XM_017009179.2:c.4211_4212delinsT	XP_016864668.1:p.Ser1404LeufsTer11
XM_017009180.1:c.5306_5307delinsT	XP_016864669.1:p.Ser1769LeufsTer11
XM_017009181.1:c.5306_5307delinsT	XP_016864670.1:p.Ser1769LeufsTer11
XM_017009182.1:c.5306_5307delinsT	XP_016864671.1:p.Ser1769LeufsTer11
XM_017009183.1:c.5306_5307delinsT	XP_016864672.1:p.Ser1769LeufsTer11
XM_017009184.1:c.5306_5307delinsT	XP_016864673.1:p.Ser1769LeufsTer11
XM_017009185.1:c.395_396delinsT	XP_016864674.1:p.Ser132LeufsTer11
XM_017009186.1:c.22-3006_22-3005delinsT	XP_016864675.1:n.22-3006_22-3005delinsT
XM_017009187.1:c.5306_5307delinsT	XP_016864676.1:p.Ser1769LeufsTer11
XM_024454388.1:c.4211_4212delinsT	XP_024310156.1:p.Ser1404LeufsTer11
XM_024454389.1:c.3800_3801delinsT	XP_024310157.1:p.Ser1267LeufsTer11
XR_001742034.1:n.5323_5324delinsT
XR_001742035.1:n.5323_5324delinsT
NM_001369.3:c.5198_5199delinsT MANE Select	NP_001360.1:p.Ser1733LeufsTer11