Canonical Allele Identifier: CA2578270569

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13839335del , CM000667.2:g.13839335del	GRCh38
NC_000005.9:g.13839444del , CM000667.1:g.13839444del	GRCh37
NC_000005.8:g.13892444del	NCBI36
NG_013081.1:g.110147del
NG_013081.2:g.110147del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.5882+22del MANE Select	ENSP00000265104.4:n.5882+22del
ENST00000681290.1:c.5837+22del	ENSP00000505288.1:n.5837+22del
ENST00000265104.4:c.5882+22del	ENSP00000265104.4:n.5882+22del
NM_001369.2:c.5882+22del	NP_001360.1:n.5882+22del
XM_005248262.2:c.5837+22del	XP_005248319.1:n.5837+22del
XM_011513990.1:c.5882+22del	XP_011512292.1:n.5882+22del
XR_925598.1:n.6089+22del
XM_005248262.3:c.5990+22del	XP_005248319.2:n.5990+22del
XM_017009177.1:c.5990+22del	XP_016864666.1:n.5990+22del
XM_017009178.1:c.4895+22del	XP_016864667.1:n.4895+22del
XM_017009179.2:c.4895+22del	XP_016864668.1:n.4895+22del
XM_017009180.1:c.5990+22del	XP_016864669.1:n.5990+22del
XM_017009181.1:c.5990+22del	XP_016864670.1:n.5990+22del
XM_017009182.1:c.5990+22del	XP_016864671.1:n.5990+22del
XM_017009183.1:c.5990+22del	XP_016864672.1:n.5990+22del
XM_017009184.1:c.5990+22del	XP_016864673.1:n.5990+22del
XM_017009185.1:c.1079+22del	XP_016864674.1:n.1079+22del
XM_017009186.1:c.632+22del	XP_016864675.1:n.632+22del
XM_017009187.1:c.5990+22del	XP_016864676.1:n.5990+22del
XM_024454388.1:c.4895+22del	XP_024310156.1:n.4895+22del
XM_024454389.1:c.4484+22del	XP_024310157.1:n.4484+22del
XR_001742034.1:n.6007+22del
XR_001742035.1:n.6007+22del
NM_001369.3:c.5882+22del MANE Select	NP_001360.1:n.5882+22del