Canonical Allele Identifier: CA2673270106

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13770718-ATATAGC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13770720_13770725del , CM000667.2:g.13770720_13770725del	GRCh38
NC_000005.9:g.13770829_13770834del , CM000667.1:g.13770829_13770834del	GRCh37
NC_000005.8:g.13823829_13823834del	NCBI36
NG_013081.1:g.178757_178762del
NG_013081.2:g.178757_178762del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9605+25_9605+30del MANE Select	ENSP00000265104.4:n.9605+25_9605+30del
ENST00000681290.1:c.9560+25_9560+30del	ENSP00000505288.1:n.9560+25_9560+30del
ENST00000265104.4:c.9605+25_9605+30del	ENSP00000265104.4:n.9605+25_9605+30del
ENST00000504001.3:n.317+25_317+30del
NM_001369.2:c.9605+25_9605+30del	NP_001360.1:n.9605+25_9605+30del
XM_005248262.2:c.9560+25_9560+30del	XP_005248319.1:n.9560+25_9560+30del
XM_005248262.3:c.9713+25_9713+30del	XP_005248319.2:n.9713+25_9713+30del
XM_017009177.1:c.9713+25_9713+30del	XP_016864666.1:n.9713+25_9713+30del
XM_017009178.1:c.8618+25_8618+30del	XP_016864667.1:n.8618+25_8618+30del
XM_017009179.2:c.8618+25_8618+30del	XP_016864668.1:n.8618+25_8618+30del
XM_017009180.1:c.9713+25_9713+30del	XP_016864669.1:n.9713+25_9713+30del
XM_017009181.1:c.9713+25_9713+30del	XP_016864670.1:n.9713+25_9713+30del
XM_017009182.1:c.9713+25_9713+30del	XP_016864671.1:n.9713+25_9713+30del
XM_017009183.1:c.*21_*26del	XP_016864672.1:n.*21_*26del
XM_017009185.1:c.4802+25_4802+30del	XP_016864674.1:n.4802+25_4802+30del
XM_017009186.1:c.4355+25_4355+30del	XP_016864675.1:n.4355+25_4355+30del
XM_017009188.1:c.3692+25_3692+30del	XP_016864677.1:n.3692+25_3692+30del
XM_024454388.1:c.8618+25_8618+30del	XP_024310156.1:n.8618+25_8618+30del
XM_024454389.1:c.8207+25_8207+30del	XP_024310157.1:n.8207+25_8207+30del
NM_001369.3:c.9605+25_9605+30del MANE Select	NP_001360.1:n.9605+25_9605+30del