Canonical Allele Identifier: CA1528486351
Gene: DNAH5 HGNC NCBI

Linked Data

dbSNP Id: rs1773129842

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13890911del , CM000667.2:g.13890911del GRCh38
NC_000005.9:g.13891020del , CM000667.1:g.13891020del GRCh37
NC_000005.8:g.13944020del NCBI36
NG_013081.1:g.58575del
NG_013081.2:g.58575del

Transcript Alleles

HGVS Amino-acid change
ENST00000265104.5:c.2577+70del MANE Select ENSP00000265104.4:n.2577+70del
ENST00000681290.1:c.2532+70del ENSP00000505288.1:n.2532+70del
ENST00000265104.4:c.2577+70del ENSP00000265104.4:n.2577+70del
NM_001369.2:c.2577+70del NP_001360.1:n.2577+70del
XM_005248262.2:c.2532+70del XP_005248319.1:n.2532+70del
XM_011513990.1:c.2577+70del XP_011512292.1:n.2577+70del
XR_925598.1:n.2784+70del
XM_005248262.3:c.2685+70del XP_005248319.2:n.2685+70del
XM_017009177.1:c.2685+70del XP_016864666.1:n.2685+70del
XM_017009178.1:c.1590+70del XP_016864667.1:n.1590+70del
XM_017009179.2:c.1590+70del XP_016864668.1:n.1590+70del
XM_017009180.1:c.2685+70del XP_016864669.1:n.2685+70del
XM_017009181.1:c.2685+70del XP_016864670.1:n.2685+70del
XM_017009182.1:c.2685+70del XP_016864671.1:n.2685+70del
XM_017009183.1:c.2685+70del XP_016864672.1:n.2685+70del
XM_017009184.1:c.2685+70del XP_016864673.1:n.2685+70del
XM_017009187.1:c.2685+70del XP_016864676.1:n.2685+70del
XM_024454388.1:c.1590+70del XP_024310156.1:n.1590+70del
XM_024454389.1:c.1179+70del XP_024310157.1:n.1179+70del
XR_001742034.1:n.2702+70del
XR_001742035.1:n.2702+70del
NM_001369.3:c.2577+70del MANE Select NP_001360.1:n.2577+70del