Canonical Allele Identifier: CA2578270978

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 2881896
• ClinVar RCV Id: RCV003649877
• gnomAD v4: 5-13885989-A-ACTAT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13885990_13885993dup , CM000667.2:g.13885990_13885993dup	GRCh38
NC_000005.9:g.13886099_13886102dup , CM000667.1:g.13886099_13886102dup	GRCh37
NC_000005.8:g.13939099_13939102dup	NCBI36
NG_013081.1:g.63488_63491dup
NG_013081.2:g.63488_63491dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.2714_2717dup MANE Select	ENSP00000265104.4:p.Ser906ArgfsTer2
ENST00000681290.1:c.2669_2672dup	ENSP00000505288.1:p.Ser891ArgfsTer2
ENST00000265104.4:c.2714_2717dup	ENSP00000265104.4:p.Ser906ArgfsTer2
NM_001369.2:c.2714_2717dup	NP_001360.1:p.Ser906ArgfsTer2
XM_005248262.2:c.2669_2672dup	XP_005248319.1:p.Ser891ArgfsTer2
XM_011513990.1:c.2714_2717dup	XP_011512292.1:p.Ser906ArgfsTer2
XR_925598.1:n.2921_2924dup
XM_005248262.3:c.2822_2825dup	XP_005248319.2:p.Ser942ArgfsTer2
XM_017009177.1:c.2822_2825dup	XP_016864666.1:p.Ser942ArgfsTer2
XM_017009178.1:c.1727_1730dup	XP_016864667.1:p.Ser577ArgfsTer2
XM_017009179.2:c.1727_1730dup	XP_016864668.1:p.Ser577ArgfsTer2
XM_017009180.1:c.2822_2825dup	XP_016864669.1:p.Ser942ArgfsTer2
XM_017009181.1:c.2822_2825dup	XP_016864670.1:p.Ser942ArgfsTer2
XM_017009182.1:c.2822_2825dup	XP_016864671.1:p.Ser942ArgfsTer2
XM_017009183.1:c.2822_2825dup	XP_016864672.1:p.Ser942ArgfsTer2
XM_017009184.1:c.2822_2825dup	XP_016864673.1:p.Ser942ArgfsTer2
XM_017009187.1:c.2822_2825dup	XP_016864676.1:p.Ser942ArgfsTer2
XM_024454388.1:c.1727_1730dup	XP_024310156.1:p.Ser577ArgfsTer2
XM_024454389.1:c.1316_1319dup	XP_024310157.1:p.Ser440ArgfsTer2
XR_001742034.1:n.2839_2842dup
XR_001742035.1:n.2839_2842dup
NM_001369.3:c.2714_2717dup MANE Select	NP_001360.1:p.Ser906ArgfsTer2