Canonical Allele Identifier: CA1073393544

Gene: DNAH5

Linked Data

• gnomAD v3: 5-13770648-C-CAA
• gnomAD v4: 5-13770648-C-CAA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13770651_13770652dup , CM000667.2:g.13770651_13770652dup	GRCh38
NC_000005.9:g.13770760_13770761dup , CM000667.1:g.13770760_13770761dup	GRCh37
NC_000005.8:g.13823760_13823761dup	NCBI36
NG_013081.1:g.178831_178832dup
NG_013081.2:g.178831_178832dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9605+99_9605+100dup MANE Select	ENSP00000265104.4:n.9605+99_9605+100dup
ENST00000681290.1:c.9560+99_9560+100dup	ENSP00000505288.1:n.9560+99_9560+100dup
ENST00000265104.4:c.9605+99_9605+100dup	ENSP00000265104.4:n.9605+99_9605+100dup
ENST00000504001.3:n.317+99_317+100dup
NM_001369.2:c.9605+99_9605+100dup	NP_001360.1:n.9605+99_9605+100dup
XM_005248262.2:c.9560+99_9560+100dup	XP_005248319.1:n.9560+99_9560+100dup
XM_005248262.3:c.9713+99_9713+100dup	XP_005248319.2:n.9713+99_9713+100dup
XM_017009177.1:c.9713+99_9713+100dup	XP_016864666.1:n.9713+99_9713+100dup
XM_017009178.1:c.8618+99_8618+100dup	XP_016864667.1:n.8618+99_8618+100dup
XM_017009179.2:c.8618+99_8618+100dup	XP_016864668.1:n.8618+99_8618+100dup
XM_017009180.1:c.9713+99_9713+100dup	XP_016864669.1:n.9713+99_9713+100dup
XM_017009181.1:c.9713+99_9713+100dup	XP_016864670.1:n.9713+99_9713+100dup
XM_017009182.1:c.9713+99_9713+100dup	XP_016864671.1:n.9713+99_9713+100dup
XM_017009183.1:c.*95_*96dup	XP_016864672.1:n.*95_*96dup
XM_017009185.1:c.4802+99_4802+100dup	XP_016864674.1:n.4802+99_4802+100dup
XM_017009186.1:c.4355+99_4355+100dup	XP_016864675.1:n.4355+99_4355+100dup
XM_017009188.1:c.3692+99_3692+100dup	XP_016864677.1:n.3692+99_3692+100dup
XM_024454388.1:c.8618+99_8618+100dup	XP_024310156.1:n.8618+99_8618+100dup
XM_024454389.1:c.8207+99_8207+100dup	XP_024310157.1:n.8207+99_8207+100dup
NM_001369.3:c.9605+99_9605+100dup MANE Select	NP_001360.1:n.9605+99_9605+100dup