Canonical Allele Identifier: CA2673268011
Gene: DNAH5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13735724_13735725del , CM000667.2:g.13735724_13735725del GRCh38
NC_000005.9:g.13735833_13735834del , CM000667.1:g.13735833_13735834del GRCh37
NC_000005.8:g.13788833_13788834del NCBI36
NG_013081.1:g.213758_213759del
NG_013081.2:g.213758_213759del

Transcript Alleles

HGVS Amino-acid change
ENST00000265104.5:c.11570+95_11570+96del MANE Select ENSP00000265104.4:n.11570+95_11570+96del
ENST00000681290.1:c.11525+95_11525+96del ENSP00000505288.1:n.11525+95_11525+96del
ENST00000265104.4:c.11570+95_11570+96del ENSP00000265104.4:n.11570+95_11570+96del
NM_001369.2:c.11570+95_11570+96del NP_001360.1:n.11570+95_11570+96del
XM_005248262.2:c.11525+95_11525+96del XP_005248319.1:n.11525+95_11525+96del
XM_005248262.3:c.11678+95_11678+96del XP_005248319.2:n.11678+95_11678+96del
XM_017009177.1:c.11678+95_11678+96del XP_016864666.1:n.11678+95_11678+96del
XM_017009178.1:c.10583+95_10583+96del XP_016864667.1:n.10583+95_10583+96del
XM_017009179.2:c.10583+95_10583+96del XP_016864668.1:n.10583+95_10583+96del
XM_017009180.1:c.11678+95_11678+96del XP_016864669.1:n.11678+95_11678+96del
XM_017009181.1:c.11678+95_11678+96del XP_016864670.1:n.11678+95_11678+96del
XM_017009182.1:c.*4+95_*4+96del XP_016864671.1:n.*4+95_*4+96del
XM_017009185.1:c.6767+95_6767+96del XP_016864674.1:n.6767+95_6767+96del
XM_017009186.1:c.6320+95_6320+96del XP_016864675.1:n.6320+95_6320+96del
XM_017009188.1:c.5657+95_5657+96del XP_016864677.1:n.5657+95_5657+96del
XM_024454388.1:c.10583+95_10583+96del XP_024310156.1:n.10583+95_10583+96del
XM_024454389.1:c.10172+95_10172+96del XP_024310157.1:n.10172+95_10172+96del
NM_001369.3:c.11570+95_11570+96del MANE Select NP_001360.1:n.11570+95_11570+96del