Canonical Allele Identifier: CA1528458494
Gene: DNAH5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13841912_13841913delinsAG , CM000667.2:g.13841912_13841913delinsAG GRCh38
NC_000005.9:g.13842021_13842022delinsAG , CM000667.1:g.13842021_13842022delinsAG GRCh37
NC_000005.8:g.13895021_13895022delinsAG NCBI36
NG_013081.1:g.107568_107569delinsCT
NG_013081.2:g.107568_107569delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000265104.5:c.5272-9_5272-8delinsCT MANE Select ENSP00000265104.4:n.5272-9_5272-8delinsCT
ENST00000681290.1:c.5227-9_5227-8delinsCT ENSP00000505288.1:n.5227-9_5227-8delinsCT
ENST00000265104.4:c.5272-9_5272-8delinsCT ENSP00000265104.4:n.5272-9_5272-8delinsCT
NM_001369.2:c.5272-9_5272-8delinsCT NP_001360.1:n.5272-9_5272-8delinsCT
XM_005248262.2:c.5227-9_5227-8delinsCT XP_005248319.1:n.5227-9_5227-8delinsCT
XM_011513990.1:c.5272-9_5272-8delinsCT XP_011512292.1:n.5272-9_5272-8delinsCT
XR_925598.1:n.5479-9_5479-8delinsCT
XM_005248262.3:c.5380-9_5380-8delinsCT XP_005248319.2:n.5380-9_5380-8delinsCT
XM_017009177.1:c.5380-9_5380-8delinsCT XP_016864666.1:n.5380-9_5380-8delinsCT
XM_017009178.1:c.4285-9_4285-8delinsCT XP_016864667.1:n.4285-9_4285-8delinsCT
XM_017009179.2:c.4285-9_4285-8delinsCT XP_016864668.1:n.4285-9_4285-8delinsCT
XM_017009180.1:c.5380-9_5380-8delinsCT XP_016864669.1:n.5380-9_5380-8delinsCT
XM_017009181.1:c.5380-9_5380-8delinsCT XP_016864670.1:n.5380-9_5380-8delinsCT
XM_017009182.1:c.5380-9_5380-8delinsCT XP_016864671.1:n.5380-9_5380-8delinsCT
XM_017009183.1:c.5380-9_5380-8delinsCT XP_016864672.1:n.5380-9_5380-8delinsCT
XM_017009184.1:c.5380-9_5380-8delinsCT XP_016864673.1:n.5380-9_5380-8delinsCT
XM_017009185.1:c.469-9_469-8delinsCT XP_016864674.1:n.469-9_469-8delinsCT
XM_017009186.1:c.22-9_22-8delinsCT XP_016864675.1:n.22-9_22-8delinsCT
XM_017009187.1:c.5380-9_5380-8delinsCT XP_016864676.1:n.5380-9_5380-8delinsCT
XM_024454388.1:c.4285-9_4285-8delinsCT XP_024310156.1:n.4285-9_4285-8delinsCT
XM_024454389.1:c.3874-9_3874-8delinsCT XP_024310157.1:n.3874-9_3874-8delinsCT
XR_001742034.1:n.5397-9_5397-8delinsCT
XR_001742035.1:n.5397-9_5397-8delinsCT
NM_001369.3:c.5272-9_5272-8delinsCT MANE Select NP_001360.1:n.5272-9_5272-8delinsCT