Canonical Allele Identifier: CA1528435065
Gene: DNAH5 HGNC NCBI

Linked Data

dbSNP Id: rs1754779639

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13779555del , CM000667.2:g.13779555del GRCh38
NC_000005.9:g.13779664del , CM000667.1:g.13779664del GRCh37
NC_000005.8:g.13832664del NCBI36
NG_013081.1:g.169928del
NG_013081.2:g.169928del

Transcript Alleles

HGVS Amino-acid Change
ENST00000265104.5:c.8951+1276del MANE Select ENSP00000265104.4:n.8951+1276del
ENST00000681290.1:c.8906+1276del ENSP00000505288.1:n.8906+1276del
ENST00000265104.4:c.8951+1276del ENSP00000265104.4:n.8951+1276del
NM_001369.2:c.8951+1276del NP_001360.1:n.8951+1276del
XM_005248262.2:c.8906+1276del XP_005248319.1:n.8906+1276del
XM_011513990.1:c.8951+1276del XP_011512292.1:n.8951+1276del
XR_925598.1:n.9028-2198del
XM_005248262.3:c.9059+1276del XP_005248319.2:n.9059+1276del
XM_017009177.1:c.9059+1276del XP_016864666.1:n.9059+1276del
XM_017009178.1:c.7964+1276del XP_016864667.1:n.7964+1276del
XM_017009179.2:c.7964+1276del XP_016864668.1:n.7964+1276del
XM_017009180.1:c.9059+1276del XP_016864669.1:n.9059+1276del
XM_017009181.1:c.9059+1276del XP_016864670.1:n.9059+1276del
XM_017009182.1:c.9059+1276del XP_016864671.1:n.9059+1276del
XM_017009183.1:c.9059+1276del XP_016864672.1:n.9059+1276del
XM_017009184.1:c.9059+1276del XP_016864673.1:n.9059+1276del
XM_017009185.1:c.4148+1276del XP_016864674.1:n.4148+1276del
XM_017009186.1:c.3701+1276del XP_016864675.1:n.3701+1276del
XM_017009188.1:c.3038+1276del XP_016864677.1:n.3038+1276del
XM_024454388.1:c.7964+1276del XP_024310156.1:n.7964+1276del
XM_024454389.1:c.7553+1276del XP_024310157.1:n.7553+1276del
XR_001742034.1:n.8946-2198del
XR_001742035.1:n.8946-2198del
NM_001369.3:c.8951+1276del MANE Select NP_001360.1:n.8951+1276del