Canonical Allele Identifier: CA2566019313
Gene: DNAH5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13771152_13771206del , CM000667.2:g.13771152_13771206del GRCh38
NC_000005.9:g.13771261_13771315del , CM000667.1:g.13771261_13771315del GRCh37
NC_000005.8:g.13824261_13824315del NCBI36
NG_013081.1:g.178282_178336del
NG_013081.2:g.178282_178336del

Transcript Alleles

HGVS Amino-acid Change
ENST00000265104.5:c.9374-219_9374-165del MANE Select ENSP00000265104.4:n.9374-219_9374-165del
ENST00000681290.1:c.9329-219_9329-165del ENSP00000505288.1:n.9329-219_9329-165del
ENST00000265104.4:c.9374-219_9374-165del ENSP00000265104.4:n.9374-219_9374-165del
ENST00000504001.3:n.84_85+53del
NM_001369.2:c.9374-219_9374-165del NP_001360.1:n.9374-219_9374-165del
XM_005248262.2:c.9329-219_9329-165del XP_005248319.1:n.9329-219_9329-165del
XM_005248262.3:c.9482-219_9482-165del XP_005248319.2:n.9482-219_9482-165del
XM_017009177.1:c.9482-219_9482-165del XP_016864666.1:n.9482-219_9482-165del
XM_017009178.1:c.8387-219_8387-165del XP_016864667.1:n.8387-219_8387-165del
XM_017009179.2:c.8387-219_8387-165del XP_016864668.1:n.8387-219_8387-165del
XM_017009180.1:c.9482-219_9482-165del XP_016864669.1:n.9482-219_9482-165del
XM_017009181.1:c.9482-219_9482-165del XP_016864670.1:n.9482-219_9482-165del
XM_017009182.1:c.9482-219_9482-165del XP_016864671.1:n.9482-219_9482-165del
XM_017009183.1:c.9482-219_9482-165del XP_016864672.1:n.9482-219_9482-165del
XM_017009185.1:c.4571-219_4571-165del XP_016864674.1:n.4571-219_4571-165del
XM_017009186.1:c.4124-219_4124-165del XP_016864675.1:n.4124-219_4124-165del
XM_017009188.1:c.3461-219_3461-165del XP_016864677.1:n.3461-219_3461-165del
XM_024454388.1:c.8387-219_8387-165del XP_024310156.1:n.8387-219_8387-165del
XM_024454389.1:c.7976-219_7976-165del XP_024310157.1:n.7976-219_7976-165del
NM_001369.3:c.9374-219_9374-165del MANE Select NP_001360.1:n.9374-219_9374-165del