Canonical Allele Identifier: CA1528431158
Gene: DNAH5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13770730_13770731delinsAT , CM000667.2:g.13770730_13770731delinsAT GRCh38
NC_000005.9:g.13770839_13770840delinsAT , CM000667.1:g.13770839_13770840delinsAT GRCh37
NC_000005.8:g.13823839_13823840delinsAT NCBI36
NG_013081.1:g.178750_178751delinsAT
NG_013081.2:g.178750_178751delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000265104.5:c.9605+18_9605+19delinsAT MANE Select ENSP00000265104.4:n.9605+18_9605+19delinsAT
ENST00000681290.1:c.9560+18_9560+19delinsAT ENSP00000505288.1:n.9560+18_9560+19delinsAT
ENST00000265104.4:c.9605+18_9605+19delinsAT ENSP00000265104.4:n.9605+18_9605+19delinsAT
ENST00000504001.3:n.317+18_317+19delinsAT
NM_001369.2:c.9605+18_9605+19delinsAT NP_001360.1:n.9605+18_9605+19delinsAT
XM_005248262.2:c.9560+18_9560+19delinsAT XP_005248319.1:n.9560+18_9560+19delinsAT
XM_005248262.3:c.9713+18_9713+19delinsAT XP_005248319.2:n.9713+18_9713+19delinsAT
XM_017009177.1:c.9713+18_9713+19delinsAT XP_016864666.1:n.9713+18_9713+19delinsAT
XM_017009178.1:c.8618+18_8618+19delinsAT XP_016864667.1:n.8618+18_8618+19delinsAT
XM_017009179.2:c.8618+18_8618+19delinsAT XP_016864668.1:n.8618+18_8618+19delinsAT
XM_017009180.1:c.9713+18_9713+19delinsAT XP_016864669.1:n.9713+18_9713+19delinsAT
XM_017009181.1:c.9713+18_9713+19delinsAT XP_016864670.1:n.9713+18_9713+19delinsAT
XM_017009182.1:c.9713+18_9713+19delinsAT XP_016864671.1:n.9713+18_9713+19delinsAT
XM_017009183.1:c.*14_*15delinsAT XP_016864672.1:n.*14_*15delinsAT
XM_017009185.1:c.4802+18_4802+19delinsAT XP_016864674.1:n.4802+18_4802+19delinsAT
XM_017009186.1:c.4355+18_4355+19delinsAT XP_016864675.1:n.4355+18_4355+19delinsAT
XM_017009188.1:c.3692+18_3692+19delinsAT XP_016864677.1:n.3692+18_3692+19delinsAT
XM_024454388.1:c.8618+18_8618+19delinsAT XP_024310156.1:n.8618+18_8618+19delinsAT
XM_024454389.1:c.8207+18_8207+19delinsAT XP_024310157.1:n.8207+18_8207+19delinsAT
NM_001369.3:c.9605+18_9605+19delinsAT MANE Select NP_001360.1:n.9605+18_9605+19delinsAT