Canonical Allele Identifier: CA2673273785
Gene: DNAH5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13830522_13830546del , CM000667.2:g.13830522_13830546del GRCh38
NC_000005.9:g.13830631_13830655del , CM000667.1:g.13830631_13830655del GRCh37
NC_000005.8:g.13883631_13883655del NCBI36
NG_013081.1:g.118938_118962del
NG_013081.2:g.118938_118962del

Transcript Alleles

HGVS Amino-acid change
ENST00000683090.1:n.992+54_992+78del
ENST00000265104.5:c.6061+54_6061+78del MANE Select ENSP00000265104.4:n.6061+54_6061+78del
ENST00000681290.1:c.6016+54_6016+78del ENSP00000505288.1:n.6016+54_6016+78del
ENST00000265104.4:c.6061+54_6061+78del ENSP00000265104.4:n.6061+54_6061+78del
NM_001369.2:c.6061+54_6061+78del NP_001360.1:n.6061+54_6061+78del
XM_005248262.2:c.6016+54_6016+78del XP_005248319.1:n.6016+54_6016+78del
XM_011513990.1:c.6061+54_6061+78del XP_011512292.1:n.6061+54_6061+78del
XR_925598.1:n.6268+54_6268+78del
XM_005248262.3:c.6169+54_6169+78del XP_005248319.2:n.6169+54_6169+78del
XM_017009177.1:c.6169+54_6169+78del XP_016864666.1:n.6169+54_6169+78del
XM_017009178.1:c.5074+54_5074+78del XP_016864667.1:n.5074+54_5074+78del
XM_017009179.2:c.5074+54_5074+78del XP_016864668.1:n.5074+54_5074+78del
XM_017009180.1:c.6169+54_6169+78del XP_016864669.1:n.6169+54_6169+78del
XM_017009181.1:c.6169+54_6169+78del XP_016864670.1:n.6169+54_6169+78del
XM_017009182.1:c.6169+54_6169+78del XP_016864671.1:n.6169+54_6169+78del
XM_017009183.1:c.6169+54_6169+78del XP_016864672.1:n.6169+54_6169+78del
XM_017009184.1:c.6169+54_6169+78del XP_016864673.1:n.6169+54_6169+78del
XM_017009185.1:c.1258+54_1258+78del XP_016864674.1:n.1258+54_1258+78del
XM_017009186.1:c.811+54_811+78del XP_016864675.1:n.811+54_811+78del
XM_017009187.1:c.6169+54_6169+78del XP_016864676.1:n.6169+54_6169+78del
XM_017009188.1:c.148+54_148+78del XP_016864677.1:n.148+54_148+78del
XM_024454388.1:c.5074+54_5074+78del XP_024310156.1:n.5074+54_5074+78del
XM_024454389.1:c.4663+54_4663+78del XP_024310157.1:n.4663+54_4663+78del
XR_001742034.1:n.6186+54_6186+78del
XR_001742035.1:n.6186+54_6186+78del
NM_001369.3:c.6061+54_6061+78del MANE Select NP_001360.1:n.6061+54_6061+78del