Canonical Allele Identifier: CA2578269990
Gene: DNAH5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13776345del , CM000667.2:g.13776345del GRCh38
NC_000005.9:g.13776454del , CM000667.1:g.13776454del GRCh37
NC_000005.8:g.13829454del NCBI36
NG_013081.1:g.173137del
NG_013081.2:g.173137del

Transcript Alleles

HGVS Amino-acid Change
ENST00000265104.5:c.9373+95del MANE Select ENSP00000265104.4:n.9373+95del
ENST00000681290.1:c.9328+95del ENSP00000505288.1:n.9328+95del
ENST00000265104.4:c.9373+95del ENSP00000265104.4:n.9373+95del
NM_001369.2:c.9373+95del NP_001360.1:n.9373+95del
XM_005248262.2:c.9328+95del XP_005248319.1:n.9328+95del
XM_005248262.3:c.9481+95del XP_005248319.2:n.9481+95del
XM_017009177.1:c.9481+95del XP_016864666.1:n.9481+95del
XM_017009178.1:c.8386+95del XP_016864667.1:n.8386+95del
XM_017009179.2:c.8386+95del XP_016864668.1:n.8386+95del
XM_017009180.1:c.9481+95del XP_016864669.1:n.9481+95del
XM_017009181.1:c.9481+95del XP_016864670.1:n.9481+95del
XM_017009182.1:c.9481+95del XP_016864671.1:n.9481+95del
XM_017009183.1:c.9481+95del XP_016864672.1:n.9481+95del
XM_017009185.1:c.4570+95del XP_016864674.1:n.4570+95del
XM_017009186.1:c.4123+95del XP_016864675.1:n.4123+95del
XM_017009188.1:c.3460+95del XP_016864677.1:n.3460+95del
XM_024454388.1:c.8386+95del XP_024310156.1:n.8386+95del
XM_024454389.1:c.7975+95del XP_024310157.1:n.7975+95del
NM_001369.3:c.9373+95del MANE Select NP_001360.1:n.9373+95del