Canonical Allele Identifier: CA2673269834
Gene: DNAH5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13769265_13769270del , CM000667.2:g.13769265_13769270del GRCh38
NC_000005.9:g.13769374_13769379del , CM000667.1:g.13769374_13769379del GRCh37
NC_000005.8:g.13822374_13822379del NCBI36
NG_013081.1:g.180212_180217del
NG_013081.2:g.180212_180217del

Transcript Alleles

HGVS Amino-acid Change
ENST00000265104.5:c.9721-133_9721-128del MANE Select ENSP00000265104.4:n.9721-133_9721-128del
ENST00000681290.1:c.9676-133_9676-128del ENSP00000505288.1:n.9676-133_9676-128del
ENST00000265104.4:c.9721-133_9721-128del ENSP00000265104.4:n.9721-133_9721-128del
ENST00000504001.3:n.433-133_433-128del
NM_001369.2:c.9721-133_9721-128del NP_001360.1:n.9721-133_9721-128del
XM_005248262.2:c.9676-133_9676-128del XP_005248319.1:n.9676-133_9676-128del
XM_005248262.3:c.9829-133_9829-128del XP_005248319.2:n.9829-133_9829-128del
XM_017009177.1:c.9829-133_9829-128del XP_016864666.1:n.9829-133_9829-128del
XM_017009178.1:c.8734-133_8734-128del XP_016864667.1:n.8734-133_8734-128del
XM_017009179.2:c.8734-133_8734-128del XP_016864668.1:n.8734-133_8734-128del
XM_017009180.1:c.9829-133_9829-128del XP_016864669.1:n.9829-133_9829-128del
XM_017009181.1:c.9829-133_9829-128del XP_016864670.1:n.9829-133_9829-128del
XM_017009182.1:c.9829-133_9829-128del XP_016864671.1:n.9829-133_9829-128del
XM_017009185.1:c.4918-133_4918-128del XP_016864674.1:n.4918-133_4918-128del
XM_017009186.1:c.4471-133_4471-128del XP_016864675.1:n.4471-133_4471-128del
XM_017009188.1:c.3808-133_3808-128del XP_016864677.1:n.3808-133_3808-128del
XM_024454388.1:c.8734-133_8734-128del XP_024310156.1:n.8734-133_8734-128del
XM_024454389.1:c.8323-133_8323-128del XP_024310157.1:n.8323-133_8323-128del
NM_001369.3:c.9721-133_9721-128del MANE Select NP_001360.1:n.9721-133_9721-128del