Canonical Allele Identifier: CA2673273805
Gene: DNAH5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13830559_13830562del , CM000667.2:g.13830559_13830562del GRCh38
NC_000005.9:g.13830668_13830671del , CM000667.1:g.13830668_13830671del GRCh37
NC_000005.8:g.13883668_13883671del NCBI36
NG_013081.1:g.118919_118922del
NG_013081.2:g.118919_118922del

Transcript Alleles

HGVS Amino-acid change
ENST00000683090.1:n.992+35_992+38del
ENST00000265104.5:c.6061+35_6061+38del MANE Select ENSP00000265104.4:n.6061+35_6061+38del
ENST00000681290.1:c.6016+35_6016+38del ENSP00000505288.1:n.6016+35_6016+38del
ENST00000265104.4:c.6061+35_6061+38del ENSP00000265104.4:n.6061+35_6061+38del
NM_001369.2:c.6061+35_6061+38del NP_001360.1:n.6061+35_6061+38del
XM_005248262.2:c.6016+35_6016+38del XP_005248319.1:n.6016+35_6016+38del
XM_011513990.1:c.6061+35_6061+38del XP_011512292.1:n.6061+35_6061+38del
XR_925598.1:n.6268+35_6268+38del
XM_005248262.3:c.6169+35_6169+38del XP_005248319.2:n.6169+35_6169+38del
XM_017009177.1:c.6169+35_6169+38del XP_016864666.1:n.6169+35_6169+38del
XM_017009178.1:c.5074+35_5074+38del XP_016864667.1:n.5074+35_5074+38del
XM_017009179.2:c.5074+35_5074+38del XP_016864668.1:n.5074+35_5074+38del
XM_017009180.1:c.6169+35_6169+38del XP_016864669.1:n.6169+35_6169+38del
XM_017009181.1:c.6169+35_6169+38del XP_016864670.1:n.6169+35_6169+38del
XM_017009182.1:c.6169+35_6169+38del XP_016864671.1:n.6169+35_6169+38del
XM_017009183.1:c.6169+35_6169+38del XP_016864672.1:n.6169+35_6169+38del
XM_017009184.1:c.6169+35_6169+38del XP_016864673.1:n.6169+35_6169+38del
XM_017009185.1:c.1258+35_1258+38del XP_016864674.1:n.1258+35_1258+38del
XM_017009186.1:c.811+35_811+38del XP_016864675.1:n.811+35_811+38del
XM_017009187.1:c.6169+35_6169+38del XP_016864676.1:n.6169+35_6169+38del
XM_017009188.1:c.148+35_148+38del XP_016864677.1:n.148+35_148+38del
XM_024454388.1:c.5074+35_5074+38del XP_024310156.1:n.5074+35_5074+38del
XM_024454389.1:c.4663+35_4663+38del XP_024310157.1:n.4663+35_4663+38del
XR_001742034.1:n.6186+35_6186+38del
XR_001742035.1:n.6186+35_6186+38del
NM_001369.3:c.6061+35_6061+38del MANE Select NP_001360.1:n.6061+35_6061+38del