Canonical Allele Identifier: CA2578270044
Gene: DNAH5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13770745_13770748dup , CM000667.2:g.13770745_13770748dup GRCh38
NC_000005.9:g.13770854_13770857dup , CM000667.1:g.13770854_13770857dup GRCh37
NC_000005.8:g.13823854_13823857dup NCBI36
NG_013081.1:g.178735_178738dup
NG_013081.2:g.178735_178738dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000265104.5:c.9605+3_9605+6dup MANE Select ENSP00000265104.4:n.9605+3_9605+6dup
ENST00000681290.1:c.9560+3_9560+6dup ENSP00000505288.1:n.9560+3_9560+6dup
ENST00000265104.4:c.9605+3_9605+6dup ENSP00000265104.4:n.9605+3_9605+6dup
ENST00000504001.3:n.317+3_317+6dup
NM_001369.2:c.9605+3_9605+6dup NP_001360.1:n.9605+3_9605+6dup
XM_005248262.2:c.9560+3_9560+6dup XP_005248319.1:n.9560+3_9560+6dup
XM_005248262.3:c.9713+3_9713+6dup XP_005248319.2:n.9713+3_9713+6dup
XM_017009177.1:c.9713+3_9713+6dup XP_016864666.1:n.9713+3_9713+6dup
XM_017009178.1:c.8618+3_8618+6dup XP_016864667.1:n.8618+3_8618+6dup
XM_017009179.2:c.8618+3_8618+6dup XP_016864668.1:n.8618+3_8618+6dup
XM_017009180.1:c.9713+3_9713+6dup XP_016864669.1:n.9713+3_9713+6dup
XM_017009181.1:c.9713+3_9713+6dup XP_016864670.1:n.9713+3_9713+6dup
XM_017009182.1:c.9713+3_9713+6dup XP_016864671.1:n.9713+3_9713+6dup
XM_017009183.1:c.9716_*2dup XP_016864672.1:n.9716_*2dup
XM_017009185.1:c.4802+3_4802+6dup XP_016864674.1:n.4802+3_4802+6dup
XM_017009186.1:c.4355+3_4355+6dup XP_016864675.1:n.4355+3_4355+6dup
XM_017009188.1:c.3692+3_3692+6dup XP_016864677.1:n.3692+3_3692+6dup
XM_024454388.1:c.8618+3_8618+6dup XP_024310156.1:n.8618+3_8618+6dup
XM_024454389.1:c.8207+3_8207+6dup XP_024310157.1:n.8207+3_8207+6dup
NM_001369.3:c.9605+3_9605+6dup MANE Select NP_001360.1:n.9605+3_9605+6dup