Canonical Allele Identifier: CA2673266107
Gene: DNAH5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13692148_13692149del , CM000667.2:g.13692148_13692149del GRCh38
NC_000005.9:g.13692257_13692258del , CM000667.1:g.13692257_13692258del GRCh37
NC_000005.8:g.13745257_13745258del NCBI36
NG_013081.1:g.257333_257334del
NG_013081.2:g.257333_257334del

Transcript Alleles

HGVS Amino-acid change
ENST00000683611.1:n.1057-13_1057-12del
ENST00000265104.5:c.13724-13_13724-12del MANE Select ENSP00000265104.4:n.13724-13_13724-12del
ENST00000681290.1:c.13679-13_13679-12del ENSP00000505288.1:n.13679-13_13679-12del
ENST00000265104.4:c.13724-13_13724-12del ENSP00000265104.4:n.13724-13_13724-12del
NM_001369.2:c.13724-13_13724-12del NP_001360.1:n.13724-13_13724-12del
XM_005248262.2:c.13679-13_13679-12del XP_005248319.1:n.13679-13_13679-12del
XM_005248262.3:c.13832-13_13832-12del XP_005248319.2:n.13832-13_13832-12del
XM_017009177.1:c.13412-13_13412-12del XP_016864666.1:n.13412-13_13412-12del
XM_017009178.1:c.12737-13_12737-12del XP_016864667.1:n.12737-13_12737-12del
XM_017009179.2:c.12737-13_12737-12del XP_016864668.1:n.12737-13_12737-12del
XM_017009185.1:c.8921-13_8921-12del XP_016864674.1:n.8921-13_8921-12del
XM_017009186.1:c.8474-13_8474-12del XP_016864675.1:n.8474-13_8474-12del
XM_017009188.1:c.7811-13_7811-12del XP_016864677.1:n.7811-13_7811-12del
XM_024454388.1:c.12737-13_12737-12del XP_024310156.1:n.12737-13_12737-12del
XM_024454389.1:c.12326-13_12326-12del XP_024310157.1:n.12326-13_12326-12del
NM_001369.3:c.13724-13_13724-12del MANE Select NP_001360.1:n.13724-13_13724-12del