Canonical Allele Identifier: CA2765349760
Gene: DNAH5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13841937_13841938insATATAGTCATATAAAAAATAAAAAACAATTAATTAAATAAAAAAAAAAAAAAAAAAAAAAAAAAGA , CM000667.2:g.13841937_13841938insATATAGTCATATAAAAAATAAAAAACAATTAATTAAATAAAAAAAAAAAAAAAAAAAAAAAAAAGA GRCh38
NC_000005.9:g.13842046_13842047insATATAGTCATATAAAAAATAAAAAACAATTAATTAAATAAAAAAAAAAAAAAAAAAAAAAAAAAGA , CM000667.1:g.13842046_13842047insATATAGTCATATAAAAAATAAAAAACAATTAATTAAATAAAAAAAAAAAAAAAAAAAAAAAAAAGA GRCh37
NC_000005.8:g.13895046_13895047insATATAGTCATATAAAAAATAAAAAACAATTAATTAAATAAAAAAAAAAAAAAAAAAAAAAAAAAGA NCBI36
NG_013081.1:g.107544_107545insCTTTTTTTTTTTTTTTTTTTTTTTTTTATTTAATTAATTGTTTTTTATTTTTTATATGACTATATT
NG_013081.2:g.107544_107545insCTTTTTTTTTTTTTTTTTTTTTTTTTTATTTAATTAATTGTTTTTTATTTTTTATATGACTATATT

Transcript Alleles

HGVS Amino-acid Change
ENST00000265104.5:c.5272-33_5272-32insCTTTTTTTTTTTTTTTTTTTTTTTTTTATTTAATTAATTGTTTTTTATTTTTTATATGACTATATT MANE Select ENSP00000265104.4:n.5272-33_5272-32insCTTTTTTTTTTTTTTTTTTTTTT...
ENST00000681290.1:c.5227-33_5227-32insCTTTTTTTTTTTTTTTTTTTTTTTTTTATTTAATTAATTGTTTTTTATTTTTTATATGACTATATT ENSP00000505288.1:n.5227-33_5227-32insCTTTTTTTTTTTTTTTTTTTTTT...
ENST00000265104.4:c.5272-33_5272-32insCTTTTTTTTTTTTTTTTTTTTTTTTTTATTTAATTAATTGTTTTTTATTTTTTATATGACTATATT ENSP00000265104.4:n.5272-33_5272-32insCTTTTTTTTTTTTTTTTTTTTTT...
NM_001369.2:c.5272-33_5272-32insCTTTTTTTTTTTTTTTTTTTTTTTTTTATTTAATTAATTGTTTTTTATTTTTTATATGACTATATT NP_001360.1:n.5272-33_5272-32insCTTTTTTTTTTTTTTTTTTTTTTTTTTAT...
XM_005248262.2:c.5227-33_5227-32insCTTTTTTTTTTTTTTTTTTTTTTTTTTATTTAATTAATTGTTTTTTATTTTTTATATGACTATATT XP_005248319.1:n.5227-33_5227-32insCTTTTTTTTTTTTTTTTTTTTTTTTT...
XM_011513990.1:c.5272-33_5272-32insCTTTTTTTTTTTTTTTTTTTTTTTTTTATTTAATTAATTGTTTTTTATTTTTTATATGACTATATT XP_011512292.1:n.5272-33_5272-32insCTTTTTTTTTTTTTTTTTTTTTTTTT...
XR_925598.1:n.5479-33_5479-32insCTTTTTTTTTTTTTTTTTTTTTTTTTTATTTAATTAATTGTTTTTTATTTTTTATATGACTATATT
XM_005248262.3:c.5380-33_5380-32insCTTTTTTTTTTTTTTTTTTTTTTTTTTATTTAATTAATTGTTTTTTATTTTTTATATGACTATATT XP_005248319.2:n.5380-33_5380-32insCTTTTTTTTTTTTTTTTTTTTTTTTT...
XM_017009177.1:c.5380-33_5380-32insCTTTTTTTTTTTTTTTTTTTTTTTTTTATTTAATTAATTGTTTTTTATTTTTTATATGACTATATT XP_016864666.1:n.5380-33_5380-32insCTTTTTTTTTTTTTTTTTTTTTTTTT...
XM_017009178.1:c.4285-33_4285-32insCTTTTTTTTTTTTTTTTTTTTTTTTTTATTTAATTAATTGTTTTTTATTTTTTATATGACTATATT XP_016864667.1:n.4285-33_4285-32insCTTTTTTTTTTTTTTTTTTTTTTTTT...
XM_017009179.2:c.4285-33_4285-32insCTTTTTTTTTTTTTTTTTTTTTTTTTTATTTAATTAATTGTTTTTTATTTTTTATATGACTATATT XP_016864668.1:n.4285-33_4285-32insCTTTTTTTTTTTTTTTTTTTTTTTTT...
XM_017009180.1:c.5380-33_5380-32insCTTTTTTTTTTTTTTTTTTTTTTTTTTATTTAATTAATTGTTTTTTATTTTTTATATGACTATATT XP_016864669.1:n.5380-33_5380-32insCTTTTTTTTTTTTTTTTTTTTTTTTT...
XM_017009181.1:c.5380-33_5380-32insCTTTTTTTTTTTTTTTTTTTTTTTTTTATTTAATTAATTGTTTTTTATTTTTTATATGACTATATT XP_016864670.1:n.5380-33_5380-32insCTTTTTTTTTTTTTTTTTTTTTTTTT...
XM_017009182.1:c.5380-33_5380-32insCTTTTTTTTTTTTTTTTTTTTTTTTTTATTTAATTAATTGTTTTTTATTTTTTATATGACTATATT XP_016864671.1:n.5380-33_5380-32insCTTTTTTTTTTTTTTTTTTTTTTTTT...
XM_017009183.1:c.5380-33_5380-32insCTTTTTTTTTTTTTTTTTTTTTTTTTTATTTAATTAATTGTTTTTTATTTTTTATATGACTATATT XP_016864672.1:n.5380-33_5380-32insCTTTTTTTTTTTTTTTTTTTTTTTTT...
XM_017009184.1:c.5380-33_5380-32insCTTTTTTTTTTTTTTTTTTTTTTTTTTATTTAATTAATTGTTTTTTATTTTTTATATGACTATATT XP_016864673.1:n.5380-33_5380-32insCTTTTTTTTTTTTTTTTTTTTTTTTT...
XM_017009185.1:c.469-33_469-32insCTTTTTTTTTTTTTTTTTTTTTTTTTTATTTAATTAATTGTTTTTTATTTTTTATATGACTATATT XP_016864674.1:n.469-33_469-32insCTTTTTTTTTTTTTTTTTTTTTTTTTTA...
XM_017009186.1:c.22-33_22-32insCTTTTTTTTTTTTTTTTTTTTTTTTTTATTTAATTAATTGTTTTTTATTTTTTATATGACTATATT XP_016864675.1:n.22-33_22-32insCTTTTTTTTTTTTTTTTTTTTTTTTTTATT...
XM_017009187.1:c.5380-33_5380-32insCTTTTTTTTTTTTTTTTTTTTTTTTTTATTTAATTAATTGTTTTTTATTTTTTATATGACTATATT XP_016864676.1:n.5380-33_5380-32insCTTTTTTTTTTTTTTTTTTTTTTTTT...
XM_024454388.1:c.4285-33_4285-32insCTTTTTTTTTTTTTTTTTTTTTTTTTTATTTAATTAATTGTTTTTTATTTTTTATATGACTATATT XP_024310156.1:n.4285-33_4285-32insCTTTTTTTTTTTTTTTTTTTTTTTTT...
XM_024454389.1:c.3874-33_3874-32insCTTTTTTTTTTTTTTTTTTTTTTTTTTATTTAATTAATTGTTTTTTATTTTTTATATGACTATATT XP_024310157.1:n.3874-33_3874-32insCTTTTTTTTTTTTTTTTTTTTTTTTT...
XR_001742034.1:n.5397-33_5397-32insCTTTTTTTTTTTTTTTTTTTTTTTTTTATTTAATTAATTGTTTTTTATTTTTTATATGACTATATT
XR_001742035.1:n.5397-33_5397-32insCTTTTTTTTTTTTTTTTTTTTTTTTTTATTTAATTAATTGTTTTTTATTTTTTATATGACTATATT
NM_001369.3:c.5272-33_5272-32insCTTTTTTTTTTTTTTTTTTTTTTTTTTATTTAATTAATTGTTTTTTATTTTTTATATGACTATATT MANE Select NP_001360.1:n.5272-33_5272-32insCTTTTTTTTTTTTTTTTTTTTTTTTTTAT...