Canonical Allele Identifier: CA2578270629
Gene: DNAH5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13841918_13841921del , CM000667.2:g.13841918_13841921del GRCh38
NC_000005.9:g.13842027_13842030del , CM000667.1:g.13842027_13842030del GRCh37
NC_000005.8:g.13895027_13895030del NCBI36
NG_013081.1:g.107560_107563del
NG_013081.2:g.107560_107563del

Transcript Alleles

HGVS Amino-acid Change
ENST00000265104.5:c.5272-17_5272-14del MANE Select ENSP00000265104.4:n.5272-17_5272-14del
ENST00000681290.1:c.5227-17_5227-14del ENSP00000505288.1:n.5227-17_5227-14del
ENST00000265104.4:c.5272-17_5272-14del ENSP00000265104.4:n.5272-17_5272-14del
NM_001369.2:c.5272-17_5272-14del NP_001360.1:n.5272-17_5272-14del
XM_005248262.2:c.5227-17_5227-14del XP_005248319.1:n.5227-17_5227-14del
XM_011513990.1:c.5272-17_5272-14del XP_011512292.1:n.5272-17_5272-14del
XR_925598.1:n.5479-17_5479-14del
XM_005248262.3:c.5380-17_5380-14del XP_005248319.2:n.5380-17_5380-14del
XM_017009177.1:c.5380-17_5380-14del XP_016864666.1:n.5380-17_5380-14del
XM_017009178.1:c.4285-17_4285-14del XP_016864667.1:n.4285-17_4285-14del
XM_017009179.2:c.4285-17_4285-14del XP_016864668.1:n.4285-17_4285-14del
XM_017009180.1:c.5380-17_5380-14del XP_016864669.1:n.5380-17_5380-14del
XM_017009181.1:c.5380-17_5380-14del XP_016864670.1:n.5380-17_5380-14del
XM_017009182.1:c.5380-17_5380-14del XP_016864671.1:n.5380-17_5380-14del
XM_017009183.1:c.5380-17_5380-14del XP_016864672.1:n.5380-17_5380-14del
XM_017009184.1:c.5380-17_5380-14del XP_016864673.1:n.5380-17_5380-14del
XM_017009185.1:c.469-17_469-14del XP_016864674.1:n.469-17_469-14del
XM_017009186.1:c.22-17_22-14del XP_016864675.1:n.22-17_22-14del
XM_017009187.1:c.5380-17_5380-14del XP_016864676.1:n.5380-17_5380-14del
XM_024454388.1:c.4285-17_4285-14del XP_024310156.1:n.4285-17_4285-14del
XM_024454389.1:c.3874-17_3874-14del XP_024310157.1:n.3874-17_3874-14del
XR_001742034.1:n.5397-17_5397-14del
XR_001742035.1:n.5397-17_5397-14del
NM_001369.3:c.5272-17_5272-14del MANE Select NP_001360.1:n.5272-17_5272-14del