Canonical Allele Identifier: CA1528431121
Gene: DNAH5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13770655_13770656delinsTC , CM000667.2:g.13770655_13770656delinsTC GRCh38
NC_000005.9:g.13770764_13770765delinsTC , CM000667.1:g.13770764_13770765delinsTC GRCh37
NC_000005.8:g.13823764_13823765delinsTC NCBI36
NG_013081.1:g.178825_178826delinsGA
NG_013081.2:g.178825_178826delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000265104.5:c.9605+93_9605+94delinsGA MANE Select ENSP00000265104.4:n.9605+93_9605+94delinsGA
ENST00000681290.1:c.9560+93_9560+94delinsGA ENSP00000505288.1:n.9560+93_9560+94delinsGA
ENST00000265104.4:c.9605+93_9605+94delinsGA ENSP00000265104.4:n.9605+93_9605+94delinsGA
ENST00000504001.3:n.317+93_317+94delinsGA
NM_001369.2:c.9605+93_9605+94delinsGA NP_001360.1:n.9605+93_9605+94delinsGA
XM_005248262.2:c.9560+93_9560+94delinsGA XP_005248319.1:n.9560+93_9560+94delinsGA
XM_005248262.3:c.9713+93_9713+94delinsGA XP_005248319.2:n.9713+93_9713+94delinsGA
XM_017009177.1:c.9713+93_9713+94delinsGA XP_016864666.1:n.9713+93_9713+94delinsGA
XM_017009178.1:c.8618+93_8618+94delinsGA XP_016864667.1:n.8618+93_8618+94delinsGA
XM_017009179.2:c.8618+93_8618+94delinsGA XP_016864668.1:n.8618+93_8618+94delinsGA
XM_017009180.1:c.9713+93_9713+94delinsGA XP_016864669.1:n.9713+93_9713+94delinsGA
XM_017009181.1:c.9713+93_9713+94delinsGA XP_016864670.1:n.9713+93_9713+94delinsGA
XM_017009182.1:c.9713+93_9713+94delinsGA XP_016864671.1:n.9713+93_9713+94delinsGA
XM_017009183.1:c.*89_*90delinsGA XP_016864672.1:n.*89_*90delinsGA
XM_017009185.1:c.4802+93_4802+94delinsGA XP_016864674.1:n.4802+93_4802+94delinsGA
XM_017009186.1:c.4355+93_4355+94delinsGA XP_016864675.1:n.4355+93_4355+94delinsGA
XM_017009188.1:c.3692+93_3692+94delinsGA XP_016864677.1:n.3692+93_3692+94delinsGA
XM_024454388.1:c.8618+93_8618+94delinsGA XP_024310156.1:n.8618+93_8618+94delinsGA
XM_024454389.1:c.8207+93_8207+94delinsGA XP_024310157.1:n.8207+93_8207+94delinsGA
NM_001369.3:c.9605+93_9605+94delinsGA MANE Select NP_001360.1:n.9605+93_9605+94delinsGA