Canonical Allele Identifier: CA2673270088

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13770678-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13770680del , CM000667.2:g.13770680del	GRCh38
NC_000005.9:g.13770789del , CM000667.1:g.13770789del	GRCh37
NC_000005.8:g.13823789del	NCBI36
NG_013081.1:g.178802del
NG_013081.2:g.178802del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9605+70del MANE Select	ENSP00000265104.4:n.9605+70del
ENST00000681290.1:c.9560+70del	ENSP00000505288.1:n.9560+70del
ENST00000265104.4:c.9605+70del	ENSP00000265104.4:n.9605+70del
ENST00000504001.3:n.317+70del
NM_001369.2:c.9605+70del	NP_001360.1:n.9605+70del
XM_005248262.2:c.9560+70del	XP_005248319.1:n.9560+70del
XM_005248262.3:c.9713+70del	XP_005248319.2:n.9713+70del
XM_017009177.1:c.9713+70del	XP_016864666.1:n.9713+70del
XM_017009178.1:c.8618+70del	XP_016864667.1:n.8618+70del
XM_017009179.2:c.8618+70del	XP_016864668.1:n.8618+70del
XM_017009180.1:c.9713+70del	XP_016864669.1:n.9713+70del
XM_017009181.1:c.9713+70del	XP_016864670.1:n.9713+70del
XM_017009182.1:c.9713+70del	XP_016864671.1:n.9713+70del
XM_017009183.1:c.*66del	XP_016864672.1:n.*66del
XM_017009185.1:c.4802+70del	XP_016864674.1:n.4802+70del
XM_017009186.1:c.4355+70del	XP_016864675.1:n.4355+70del
XM_017009188.1:c.3692+70del	XP_016864677.1:n.3692+70del
XM_024454388.1:c.8618+70del	XP_024310156.1:n.8618+70del
XM_024454389.1:c.8207+70del	XP_024310157.1:n.8207+70del
NM_001369.3:c.9605+70del MANE Select	NP_001360.1:n.9605+70del