Canonical Allele Identifier: CA2673270064

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13770648-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13770648_13770649insT , CM000667.2:g.13770648_13770649insT	GRCh38
NC_000005.9:g.13770757_13770758insT , CM000667.1:g.13770757_13770758insT	GRCh37
NC_000005.8:g.13823757_13823758insT	NCBI36
NG_013081.1:g.178832_178833insA
NG_013081.2:g.178832_178833insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9605+100_9605+101insA MANE Select	ENSP00000265104.4:n.9605+100_9605+101insA
ENST00000681290.1:c.9560+100_9560+101insA	ENSP00000505288.1:n.9560+100_9560+101insA
ENST00000265104.4:c.9605+100_9605+101insA	ENSP00000265104.4:n.9605+100_9605+101insA
ENST00000504001.3:n.317+100_317+101insA
NM_001369.2:c.9605+100_9605+101insA	NP_001360.1:n.9605+100_9605+101insA
XM_005248262.2:c.9560+100_9560+101insA	XP_005248319.1:n.9560+100_9560+101insA
XM_005248262.3:c.9713+100_9713+101insA	XP_005248319.2:n.9713+100_9713+101insA
XM_017009177.1:c.9713+100_9713+101insA	XP_016864666.1:n.9713+100_9713+101insA
XM_017009178.1:c.8618+100_8618+101insA	XP_016864667.1:n.8618+100_8618+101insA
XM_017009179.2:c.8618+100_8618+101insA	XP_016864668.1:n.8618+100_8618+101insA
XM_017009180.1:c.9713+100_9713+101insA	XP_016864669.1:n.9713+100_9713+101insA
XM_017009181.1:c.9713+100_9713+101insA	XP_016864670.1:n.9713+100_9713+101insA
XM_017009182.1:c.9713+100_9713+101insA	XP_016864671.1:n.9713+100_9713+101insA
XM_017009183.1:c.*96_*97insA	XP_016864672.1:n.*96_*97insA
XM_017009185.1:c.4802+100_4802+101insA	XP_016864674.1:n.4802+100_4802+101insA
XM_017009186.1:c.4355+100_4355+101insA	XP_016864675.1:n.4355+100_4355+101insA
XM_017009188.1:c.3692+100_3692+101insA	XP_016864677.1:n.3692+100_3692+101insA
XM_024454388.1:c.8618+100_8618+101insA	XP_024310156.1:n.8618+100_8618+101insA
XM_024454389.1:c.8207+100_8207+101insA	XP_024310157.1:n.8207+100_8207+101insA
NM_001369.3:c.9605+100_9605+101insA MANE Select	NP_001360.1:n.9605+100_9605+101insA