Canonical Allele Identifier: CA2673276512
Gene: DNAH5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13871144_13871145del , CM000667.2:g.13871144_13871145del GRCh38
NC_000005.9:g.13871253_13871254del , CM000667.1:g.13871253_13871254del GRCh37
NC_000005.8:g.13924253_13924254del NCBI36
NG_013081.1:g.78336_78337del
NG_013081.2:g.78336_78337del

Transcript Alleles

HGVS Amino-acid Change
ENST00000265104.5:c.3599-143_3599-142del MANE Select ENSP00000265104.4:n.3599-143_3599-142del
ENST00000681290.1:c.3554-143_3554-142del ENSP00000505288.1:n.3554-143_3554-142del
ENST00000265104.4:c.3599-143_3599-142del ENSP00000265104.4:n.3599-143_3599-142del
NM_001369.2:c.3599-143_3599-142del NP_001360.1:n.3599-143_3599-142del
XM_005248262.2:c.3554-143_3554-142del XP_005248319.1:n.3554-143_3554-142del
XM_011513990.1:c.3599-143_3599-142del XP_011512292.1:n.3599-143_3599-142del
XR_925598.1:n.3806-143_3806-142del
XM_005248262.3:c.3707-143_3707-142del XP_005248319.2:n.3707-143_3707-142del
XM_017009177.1:c.3707-143_3707-142del XP_016864666.1:n.3707-143_3707-142del
XM_017009178.1:c.2612-143_2612-142del XP_016864667.1:n.2612-143_2612-142del
XM_017009179.2:c.2612-143_2612-142del XP_016864668.1:n.2612-143_2612-142del
XM_017009180.1:c.3707-143_3707-142del XP_016864669.1:n.3707-143_3707-142del
XM_017009181.1:c.3707-143_3707-142del XP_016864670.1:n.3707-143_3707-142del
XM_017009182.1:c.3707-143_3707-142del XP_016864671.1:n.3707-143_3707-142del
XM_017009183.1:c.3707-143_3707-142del XP_016864672.1:n.3707-143_3707-142del
XM_017009184.1:c.3707-143_3707-142del XP_016864673.1:n.3707-143_3707-142del
XM_017009187.1:c.3707-143_3707-142del XP_016864676.1:n.3707-143_3707-142del
XM_024454388.1:c.2612-143_2612-142del XP_024310156.1:n.2612-143_2612-142del
XM_024454389.1:c.2201-143_2201-142del XP_024310157.1:n.2201-143_2201-142del
XR_001742034.1:n.3724-143_3724-142del
XR_001742035.1:n.3724-143_3724-142del
NM_001369.3:c.3599-143_3599-142del MANE Select NP_001360.1:n.3599-143_3599-142del