Canonical Allele Identifier: CA557871715
Gene: DNAH5 HGNC NCBI

Linked Data

dbSNP Id: rs1225481745

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13841891_13841892insCTAAGAAAAATTTCACTCCAGAGCTTGTGTTCCTTCTATTATACTGCA , CM000667.2:g.13841891_13841892insCTAAGAAAAATTTCACTCCAGAGCTTGTGTTCCTTCTATTATACTGCA GRCh38
NC_000005.9:g.13842000_13842001insCTAAGAAAAATTTCACTCCAGAGCTTGTGTTCCTTCTATTATACTGCA , CM000667.1:g.13842000_13842001insCTAAGAAAAATTTCACTCCAGAGCTTGTGTTCCTTCTATTATACTGCA GRCh37
NC_000005.8:g.13895000_13895001insCTAAGAAAAATTTCACTCCAGAGCTTGTGTTCCTTCTATTATACTGCA NCBI36
NG_013081.1:g.107590_107591insGCAGTATAATAGAAGGAACACAAGCTCTGGAGTGAAATTTTTCTTAGT
NG_013081.2:g.107590_107591insGCAGTATAATAGAAGGAACACAAGCTCTGGAGTGAAATTTTTCTTAGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000265104.5:c.5285_5286insGCAGTATAATAGAAGGAACACAAGCTCTGGAGTGAAATTTTTCTTAGT MANE Select ENSP00000265104.4:p.Ile1762delinsMetGlnTyrAsnArgArgAsnThrSerS...
ENST00000681290.1:c.5240_5241insGCAGTATAATAGAAGGAACACAAGCTCTGGAGTGAAATTTTTCTTAGT ENSP00000505288.1:p.Ile1747delinsMetGlnTyrAsnArgArgAsnThrSerS...
ENST00000265104.4:c.5285_5286insGCAGTATAATAGAAGGAACACAAGCTCTGGAGTGAAATTTTTCTTAGT ENSP00000265104.4:p.Ile1762delinsMetGlnTyrAsnArgArgAsnThrSerS...
NM_001369.2:c.5285_5286insGCAGTATAATAGAAGGAACACAAGCTCTGGAGTGAAATTTTTCTTAGT NP_001360.1:p.Ile1762delinsMetGlnTyrAsnArgArgAsnThrSerSerGlyV...
XM_005248262.2:c.5240_5241insGCAGTATAATAGAAGGAACACAAGCTCTGGAGTGAAATTTTTCTTAGT XP_005248319.1:p.Ile1747delinsMetGlnTyrAsnArgArgAsnThrSerSerG...
XM_011513990.1:c.5285_5286insGCAGTATAATAGAAGGAACACAAGCTCTGGAGTGAAATTTTTCTTAGT XP_011512292.1:p.Ile1762delinsMetGlnTyrAsnArgArgAsnThrSerSerG...
XR_925598.1:n.5492_5493insGCAGTATAATAGAAGGAACACAAGCTCTGGAGTGAAATTTTTCTTAGT
XM_005248262.3:c.5393_5394insGCAGTATAATAGAAGGAACACAAGCTCTGGAGTGAAATTTTTCTTAGT XP_005248319.2:p.Ile1798delinsMetGlnTyrAsnArgArgAsnThrSerSerG...
XM_017009177.1:c.5393_5394insGCAGTATAATAGAAGGAACACAAGCTCTGGAGTGAAATTTTTCTTAGT XP_016864666.1:p.Ile1798delinsMetGlnTyrAsnArgArgAsnThrSerSerG...
XM_017009178.1:c.4298_4299insGCAGTATAATAGAAGGAACACAAGCTCTGGAGTGAAATTTTTCTTAGT XP_016864667.1:p.Ile1433delinsMetGlnTyrAsnArgArgAsnThrSerSerG...
XM_017009179.2:c.4298_4299insGCAGTATAATAGAAGGAACACAAGCTCTGGAGTGAAATTTTTCTTAGT XP_016864668.1:p.Ile1433delinsMetGlnTyrAsnArgArgAsnThrSerSerG...
XM_017009180.1:c.5393_5394insGCAGTATAATAGAAGGAACACAAGCTCTGGAGTGAAATTTTTCTTAGT XP_016864669.1:p.Ile1798delinsMetGlnTyrAsnArgArgAsnThrSerSerG...
XM_017009181.1:c.5393_5394insGCAGTATAATAGAAGGAACACAAGCTCTGGAGTGAAATTTTTCTTAGT XP_016864670.1:p.Ile1798delinsMetGlnTyrAsnArgArgAsnThrSerSerG...
XM_017009182.1:c.5393_5394insGCAGTATAATAGAAGGAACACAAGCTCTGGAGTGAAATTTTTCTTAGT XP_016864671.1:p.Ile1798delinsMetGlnTyrAsnArgArgAsnThrSerSerG...
XM_017009183.1:c.5393_5394insGCAGTATAATAGAAGGAACACAAGCTCTGGAGTGAAATTTTTCTTAGT XP_016864672.1:p.Ile1798delinsMetGlnTyrAsnArgArgAsnThrSerSerG...
XM_017009184.1:c.5393_5394insGCAGTATAATAGAAGGAACACAAGCTCTGGAGTGAAATTTTTCTTAGT XP_016864673.1:p.Ile1798delinsMetGlnTyrAsnArgArgAsnThrSerSerG...
XM_017009185.1:c.482_483insGCAGTATAATAGAAGGAACACAAGCTCTGGAGTGAAATTTTTCTTAGT XP_016864674.1:p.Ile161delinsMetGlnTyrAsnArgArgAsnThrSerSerGl...
XM_017009186.1:c.35_36insGCAGTATAATAGAAGGAACACAAGCTCTGGAGTGAAATTTTTCTTAGT XP_016864675.1:p.Ile12delinsMetGlnTyrAsnArgArgAsnThrSerSerGly...
XM_017009187.1:c.5393_5394insGCAGTATAATAGAAGGAACACAAGCTCTGGAGTGAAATTTTTCTTAGT XP_016864676.1:p.Ile1798delinsMetGlnTyrAsnArgArgAsnThrSerSerG...
XM_024454388.1:c.4298_4299insGCAGTATAATAGAAGGAACACAAGCTCTGGAGTGAAATTTTTCTTAGT XP_024310156.1:p.Ile1433delinsMetGlnTyrAsnArgArgAsnThrSerSerG...
XM_024454389.1:c.3887_3888insGCAGTATAATAGAAGGAACACAAGCTCTGGAGTGAAATTTTTCTTAGT XP_024310157.1:p.Ile1296delinsMetGlnTyrAsnArgArgAsnThrSerSerG...
XR_001742034.1:n.5410_5411insGCAGTATAATAGAAGGAACACAAGCTCTGGAGTGAAATTTTTCTTAGT
XR_001742035.1:n.5410_5411insGCAGTATAATAGAAGGAACACAAGCTCTGGAGTGAAATTTTTCTTAGT
NM_001369.3:c.5285_5286insGCAGTATAATAGAAGGAACACAAGCTCTGGAGTGAAATTTTTCTTAGT MANE Select NP_001360.1:p.Ile1762delinsMetGlnTyrAsnArgArgAsnThrSerSerGlyV...