Canonical Allele Identifier: CA3203707

Gene: DNAH5

Linked Data

• dbSNP Id: rs757216088
• ExAC: 5:13842000 A / ATTAAGCCAAAC
• MyVariant Identifiers: chr5:g.13842000_13842001insTTAAGCCAAAC (hg19) ; chr5:g.13841891_13841892insTTAAGCCAAAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13841893_13841894insAAGCCAAACTT , CM000667.2:g.13841893_13841894insAAGCCAAACTT	GRCh38
NC_000005.9:g.13842002_13842003insAAGCCAAACTT , CM000667.1:g.13842002_13842003insAAGCCAAACTT	GRCh37
NC_000005.8:g.13895002_13895003insAAGCCAAACTT	NCBI36
NG_013081.1:g.107589_107590insGTTTGGCTTAA
NG_013081.2:g.107589_107590insGTTTGGCTTAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.5284_5285insGTTTGGCTTAA MANE Select	ENSP00000265104.4:p.Ile1762SerfsTer4
ENST00000681290.1:c.5239_5240insGTTTGGCTTAA	ENSP00000505288.1:p.Ile1747SerfsTer4
ENST00000265104.4:c.5284_5285insGTTTGGCTTAA	ENSP00000265104.4:p.Ile1762SerfsTer4
NM_001369.2:c.5284_5285insGTTTGGCTTAA	NP_001360.1:p.Ile1762SerfsTer4
XM_005248262.2:c.5239_5240insGTTTGGCTTAA	XP_005248319.1:p.Ile1747SerfsTer4
XM_011513990.1:c.5284_5285insGTTTGGCTTAA	XP_011512292.1:p.Ile1762SerfsTer4
XR_925598.1:n.5491_5492insGTTTGGCTTAA
XM_005248262.3:c.5392_5393insGTTTGGCTTAA	XP_005248319.2:p.Ile1798SerfsTer4
XM_017009177.1:c.5392_5393insGTTTGGCTTAA	XP_016864666.1:p.Ile1798SerfsTer4
XM_017009178.1:c.4297_4298insGTTTGGCTTAA	XP_016864667.1:p.Ile1433SerfsTer4
XM_017009179.2:c.4297_4298insGTTTGGCTTAA	XP_016864668.1:p.Ile1433SerfsTer4
XM_017009180.1:c.5392_5393insGTTTGGCTTAA	XP_016864669.1:p.Ile1798SerfsTer4
XM_017009181.1:c.5392_5393insGTTTGGCTTAA	XP_016864670.1:p.Ile1798SerfsTer4
XM_017009182.1:c.5392_5393insGTTTGGCTTAA	XP_016864671.1:p.Ile1798SerfsTer4
XM_017009183.1:c.5392_5393insGTTTGGCTTAA	XP_016864672.1:p.Ile1798SerfsTer4
XM_017009184.1:c.5392_5393insGTTTGGCTTAA	XP_016864673.1:p.Ile1798SerfsTer4
XM_017009185.1:c.481_482insGTTTGGCTTAA	XP_016864674.1:p.Ile161SerfsTer4
XM_017009186.1:c.34_35insGTTTGGCTTAA	XP_016864675.1:p.Ile12SerfsTer4
XM_017009187.1:c.5392_5393insGTTTGGCTTAA	XP_016864676.1:p.Ile1798SerfsTer4
XM_024454388.1:c.4297_4298insGTTTGGCTTAA	XP_024310156.1:p.Ile1433SerfsTer4
XM_024454389.1:c.3886_3887insGTTTGGCTTAA	XP_024310157.1:p.Ile1296SerfsTer4
XR_001742034.1:n.5409_5410insGTTTGGCTTAA
XR_001742035.1:n.5409_5410insGTTTGGCTTAA
NM_001369.3:c.5284_5285insGTTTGGCTTAA MANE Select	NP_001360.1:p.Ile1762SerfsTer4