Canonical Allele Identifier: CA2512806184
Gene: DNAH5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13839119_13839120del , CM000667.2:g.13839119_13839120del GRCh38
NC_000005.9:g.13839228_13839229del , CM000667.1:g.13839228_13839229del GRCh37
NC_000005.8:g.13892228_13892229del NCBI36
NG_013081.1:g.110365_110366del
NG_013081.2:g.110365_110366del

Transcript Alleles

HGVS Amino-acid Change
ENST00000265104.5:c.5882+240_5882+241del MANE Select ENSP00000265104.4:n.5882+240_5882+241del
ENST00000681290.1:c.5837+240_5837+241del ENSP00000505288.1:n.5837+240_5837+241del
ENST00000265104.4:c.5882+240_5882+241del ENSP00000265104.4:n.5882+240_5882+241del
NM_001369.2:c.5882+240_5882+241del NP_001360.1:n.5882+240_5882+241del
XM_005248262.2:c.5837+240_5837+241del XP_005248319.1:n.5837+240_5837+241del
XM_011513990.1:c.5882+240_5882+241del XP_011512292.1:n.5882+240_5882+241del
XR_925598.1:n.6089+240_6089+241del
XM_005248262.3:c.5990+240_5990+241del XP_005248319.2:n.5990+240_5990+241del
XM_017009177.1:c.5990+240_5990+241del XP_016864666.1:n.5990+240_5990+241del
XM_017009178.1:c.4895+240_4895+241del XP_016864667.1:n.4895+240_4895+241del
XM_017009179.2:c.4895+240_4895+241del XP_016864668.1:n.4895+240_4895+241del
XM_017009180.1:c.5990+240_5990+241del XP_016864669.1:n.5990+240_5990+241del
XM_017009181.1:c.5990+240_5990+241del XP_016864670.1:n.5990+240_5990+241del
XM_017009182.1:c.5990+240_5990+241del XP_016864671.1:n.5990+240_5990+241del
XM_017009183.1:c.5990+240_5990+241del XP_016864672.1:n.5990+240_5990+241del
XM_017009184.1:c.5990+240_5990+241del XP_016864673.1:n.5990+240_5990+241del
XM_017009185.1:c.1079+240_1079+241del XP_016864674.1:n.1079+240_1079+241del
XM_017009186.1:c.632+240_632+241del XP_016864675.1:n.632+240_632+241del
XM_017009187.1:c.5990+240_5990+241del XP_016864676.1:n.5990+240_5990+241del
XM_024454388.1:c.4895+240_4895+241del XP_024310156.1:n.4895+240_4895+241del
XM_024454389.1:c.4484+240_4484+241del XP_024310157.1:n.4484+240_4484+241del
XR_001742034.1:n.6007+240_6007+241del
XR_001742035.1:n.6007+240_6007+241del
NM_001369.3:c.5882+240_5882+241del MANE Select NP_001360.1:n.5882+240_5882+241del