Canonical Allele Identifier: CA1528440754
Gene: DNAH5 HGNC NCBI

Linked Data

dbSNP Id: rs1757014256

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13791692_13791693del , CM000667.2:g.13791692_13791693del GRCh38
NC_000005.9:g.13791801_13791802del , CM000667.1:g.13791801_13791802del GRCh37
NC_000005.8:g.13844801_13844802del NCBI36
NG_013081.1:g.157790_157791del
NG_013081.2:g.157790_157791del

Transcript Alleles

HGVS Amino-acid Change
ENST00000265104.5:c.8448+303_8448+304del MANE Select ENSP00000265104.4:n.8448+303_8448+304del
ENST00000681290.1:c.8403+303_8403+304del ENSP00000505288.1:n.8403+303_8403+304del
ENST00000265104.4:c.8448+303_8448+304del ENSP00000265104.4:n.8448+303_8448+304del
NM_001369.2:c.8448+303_8448+304del NP_001360.1:n.8448+303_8448+304del
XM_005248262.2:c.8403+303_8403+304del XP_005248319.1:n.8403+303_8403+304del
XM_011513990.1:c.8448+303_8448+304del XP_011512292.1:n.8448+303_8448+304del
XR_925598.1:n.8655+303_8655+304del
XM_005248262.3:c.8556+303_8556+304del XP_005248319.2:n.8556+303_8556+304del
XM_017009177.1:c.8556+303_8556+304del XP_016864666.1:n.8556+303_8556+304del
XM_017009178.1:c.7461+303_7461+304del XP_016864667.1:n.7461+303_7461+304del
XM_017009179.2:c.7461+303_7461+304del XP_016864668.1:n.7461+303_7461+304del
XM_017009180.1:c.8556+303_8556+304del XP_016864669.1:n.8556+303_8556+304del
XM_017009181.1:c.8556+303_8556+304del XP_016864670.1:n.8556+303_8556+304del
XM_017009182.1:c.8556+303_8556+304del XP_016864671.1:n.8556+303_8556+304del
XM_017009183.1:c.8556+303_8556+304del XP_016864672.1:n.8556+303_8556+304del
XM_017009184.1:c.8556+303_8556+304del XP_016864673.1:n.8556+303_8556+304del
XM_017009185.1:c.3645+303_3645+304del XP_016864674.1:n.3645+303_3645+304del
XM_017009186.1:c.3198+303_3198+304del XP_016864675.1:n.3198+303_3198+304del
XM_017009188.1:c.2535+303_2535+304del XP_016864677.1:n.2535+303_2535+304del
XM_024454388.1:c.7461+303_7461+304del XP_024310156.1:n.7461+303_7461+304del
XM_024454389.1:c.7050+303_7050+304del XP_024310157.1:n.7050+303_7050+304del
XR_001742034.1:n.8573+303_8573+304del
XR_001742035.1:n.8573+303_8573+304del
NM_001369.3:c.8448+303_8448+304del MANE Select NP_001360.1:n.8448+303_8448+304del