Canonical Allele Identifier: CA1528431138
Gene: DNAH5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13770696_13770697delinsCT , CM000667.2:g.13770696_13770697delinsCT GRCh38
NC_000005.9:g.13770805_13770806delinsCT , CM000667.1:g.13770805_13770806delinsCT GRCh37
NC_000005.8:g.13823805_13823806delinsCT NCBI36
NG_013081.1:g.178784_178785delinsAG
NG_013081.2:g.178784_178785delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000265104.5:c.9605+52_9605+53delinsAG MANE Select ENSP00000265104.4:n.9605+52_9605+53delinsAG
ENST00000681290.1:c.9560+52_9560+53delinsAG ENSP00000505288.1:n.9560+52_9560+53delinsAG
ENST00000265104.4:c.9605+52_9605+53delinsAG ENSP00000265104.4:n.9605+52_9605+53delinsAG
ENST00000504001.3:n.317+52_317+53delinsAG
NM_001369.2:c.9605+52_9605+53delinsAG NP_001360.1:n.9605+52_9605+53delinsAG
XM_005248262.2:c.9560+52_9560+53delinsAG XP_005248319.1:n.9560+52_9560+53delinsAG
XM_005248262.3:c.9713+52_9713+53delinsAG XP_005248319.2:n.9713+52_9713+53delinsAG
XM_017009177.1:c.9713+52_9713+53delinsAG XP_016864666.1:n.9713+52_9713+53delinsAG
XM_017009178.1:c.8618+52_8618+53delinsAG XP_016864667.1:n.8618+52_8618+53delinsAG
XM_017009179.2:c.8618+52_8618+53delinsAG XP_016864668.1:n.8618+52_8618+53delinsAG
XM_017009180.1:c.9713+52_9713+53delinsAG XP_016864669.1:n.9713+52_9713+53delinsAG
XM_017009181.1:c.9713+52_9713+53delinsAG XP_016864670.1:n.9713+52_9713+53delinsAG
XM_017009182.1:c.9713+52_9713+53delinsAG XP_016864671.1:n.9713+52_9713+53delinsAG
XM_017009183.1:c.*48_*49delinsAG XP_016864672.1:n.*48_*49delinsAG
XM_017009185.1:c.4802+52_4802+53delinsAG XP_016864674.1:n.4802+52_4802+53delinsAG
XM_017009186.1:c.4355+52_4355+53delinsAG XP_016864675.1:n.4355+52_4355+53delinsAG
XM_017009188.1:c.3692+52_3692+53delinsAG XP_016864677.1:n.3692+52_3692+53delinsAG
XM_024454388.1:c.8618+52_8618+53delinsAG XP_024310156.1:n.8618+52_8618+53delinsAG
XM_024454389.1:c.8207+52_8207+53delinsAG XP_024310157.1:n.8207+52_8207+53delinsAG
NM_001369.3:c.9605+52_9605+53delinsAG MANE Select NP_001360.1:n.9605+52_9605+53delinsAG