Canonical Allele Identifier: CA1073395417
Gene: DNAH5 HGNC NCBI

Linked Data

dbSNP Id: rs1765245862

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13841956_13841957del , CM000667.2:g.13841956_13841957del GRCh38
NC_000005.9:g.13842065_13842066del , CM000667.1:g.13842065_13842066del GRCh37
NC_000005.8:g.13895065_13895066del NCBI36
NG_013081.1:g.107524_107525del
NG_013081.2:g.107524_107525del

Transcript Alleles

HGVS Amino-acid Change
ENST00000265104.5:c.5272-53_5272-52del MANE Select ENSP00000265104.4:n.5272-53_5272-52del
ENST00000681290.1:c.5227-53_5227-52del ENSP00000505288.1:n.5227-53_5227-52del
ENST00000265104.4:c.5272-53_5272-52del ENSP00000265104.4:n.5272-53_5272-52del
NM_001369.2:c.5272-53_5272-52del NP_001360.1:n.5272-53_5272-52del
XM_005248262.2:c.5227-53_5227-52del XP_005248319.1:n.5227-53_5227-52del
XM_011513990.1:c.5272-53_5272-52del XP_011512292.1:n.5272-53_5272-52del
XR_925598.1:n.5479-53_5479-52del
XM_005248262.3:c.5380-53_5380-52del XP_005248319.2:n.5380-53_5380-52del
XM_017009177.1:c.5380-53_5380-52del XP_016864666.1:n.5380-53_5380-52del
XM_017009178.1:c.4285-53_4285-52del XP_016864667.1:n.4285-53_4285-52del
XM_017009179.2:c.4285-53_4285-52del XP_016864668.1:n.4285-53_4285-52del
XM_017009180.1:c.5380-53_5380-52del XP_016864669.1:n.5380-53_5380-52del
XM_017009181.1:c.5380-53_5380-52del XP_016864670.1:n.5380-53_5380-52del
XM_017009182.1:c.5380-53_5380-52del XP_016864671.1:n.5380-53_5380-52del
XM_017009183.1:c.5380-53_5380-52del XP_016864672.1:n.5380-53_5380-52del
XM_017009184.1:c.5380-53_5380-52del XP_016864673.1:n.5380-53_5380-52del
XM_017009185.1:c.469-53_469-52del XP_016864674.1:n.469-53_469-52del
XM_017009186.1:c.22-53_22-52del XP_016864675.1:n.22-53_22-52del
XM_017009187.1:c.5380-53_5380-52del XP_016864676.1:n.5380-53_5380-52del
XM_024454388.1:c.4285-53_4285-52del XP_024310156.1:n.4285-53_4285-52del
XM_024454389.1:c.3874-53_3874-52del XP_024310157.1:n.3874-53_3874-52del
XR_001742034.1:n.5397-53_5397-52del
XR_001742035.1:n.5397-53_5397-52del
NM_001369.3:c.5272-53_5272-52del MANE Select NP_001360.1:n.5272-53_5272-52del