Canonical Allele Identifier: CA2578269863
Gene: DNAH5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13753638_13753639del , CM000667.2:g.13753638_13753639del GRCh38
NC_000005.9:g.13753747_13753748del , CM000667.1:g.13753747_13753748del GRCh37
NC_000005.8:g.13806747_13806748del NCBI36
NG_013081.1:g.195842_195843del
NG_013081.2:g.195842_195843del

Transcript Alleles

HGVS Amino-acid Change
ENST00000265104.5:c.10556-90_10556-89del MANE Select ENSP00000265104.4:n.10556-90_10556-89del
ENST00000681290.1:c.10511-90_10511-89del ENSP00000505288.1:n.10511-90_10511-89del
ENST00000265104.4:c.10556-90_10556-89del ENSP00000265104.4:n.10556-90_10556-89del
NM_001369.2:c.10556-90_10556-89del NP_001360.1:n.10556-90_10556-89del
XM_005248262.2:c.10511-90_10511-89del XP_005248319.1:n.10511-90_10511-89del
XM_005248262.3:c.10664-90_10664-89del XP_005248319.2:n.10664-90_10664-89del
XM_017009177.1:c.10664-90_10664-89del XP_016864666.1:n.10664-90_10664-89del
XM_017009178.1:c.9569-90_9569-89del XP_016864667.1:n.9569-90_9569-89del
XM_017009179.2:c.9569-90_9569-89del XP_016864668.1:n.9569-90_9569-89del
XM_017009180.1:c.10664-90_10664-89del XP_016864669.1:n.10664-90_10664-89del
XM_017009181.1:c.10664-90_10664-89del XP_016864670.1:n.10664-90_10664-89del
XM_017009182.1:c.10664-90_10664-89del XP_016864671.1:n.10664-90_10664-89del
XM_017009185.1:c.5753-90_5753-89del XP_016864674.1:n.5753-90_5753-89del
XM_017009186.1:c.5306-90_5306-89del XP_016864675.1:n.5306-90_5306-89del
XM_017009188.1:c.4643-90_4643-89del XP_016864677.1:n.4643-90_4643-89del
XM_024454388.1:c.9569-90_9569-89del XP_024310156.1:n.9569-90_9569-89del
XM_024454389.1:c.9158-90_9158-89del XP_024310157.1:n.9158-90_9158-89del
NM_001369.3:c.10556-90_10556-89del MANE Select NP_001360.1:n.10556-90_10556-89del