Canonical Allele Identifier: CA2550555056
Gene: DNAH5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13792322_13792327del , CM000667.2:g.13792322_13792327del GRCh38
NC_000005.9:g.13792431_13792436del , CM000667.1:g.13792431_13792436del GRCh37
NC_000005.8:g.13845431_13845436del NCBI36
NG_013081.1:g.157154_157159del
NG_013081.2:g.157154_157159del

Transcript Alleles

HGVS Amino-acid Change
ENST00000265104.5:c.8225-110_8225-105del MANE Select ENSP00000265104.4:n.8225-110_8225-105del
ENST00000681290.1:c.8180-110_8180-105del ENSP00000505288.1:n.8180-110_8180-105del
ENST00000265104.4:c.8225-110_8225-105del ENSP00000265104.4:n.8225-110_8225-105del
NM_001369.2:c.8225-110_8225-105del NP_001360.1:n.8225-110_8225-105del
XM_005248262.2:c.8180-110_8180-105del XP_005248319.1:n.8180-110_8180-105del
XM_011513990.1:c.8225-110_8225-105del XP_011512292.1:n.8225-110_8225-105del
XR_925598.1:n.8432-110_8432-105del
XM_005248262.3:c.8333-110_8333-105del XP_005248319.2:n.8333-110_8333-105del
XM_017009177.1:c.8333-110_8333-105del XP_016864666.1:n.8333-110_8333-105del
XM_017009178.1:c.7238-110_7238-105del XP_016864667.1:n.7238-110_7238-105del
XM_017009179.2:c.7238-110_7238-105del XP_016864668.1:n.7238-110_7238-105del
XM_017009180.1:c.8333-110_8333-105del XP_016864669.1:n.8333-110_8333-105del
XM_017009181.1:c.8333-110_8333-105del XP_016864670.1:n.8333-110_8333-105del
XM_017009182.1:c.8333-110_8333-105del XP_016864671.1:n.8333-110_8333-105del
XM_017009183.1:c.8333-110_8333-105del XP_016864672.1:n.8333-110_8333-105del
XM_017009184.1:c.8333-110_8333-105del XP_016864673.1:n.8333-110_8333-105del
XM_017009185.1:c.3422-110_3422-105del XP_016864674.1:n.3422-110_3422-105del
XM_017009186.1:c.2975-110_2975-105del XP_016864675.1:n.2975-110_2975-105del
XM_017009188.1:c.2312-110_2312-105del XP_016864677.1:n.2312-110_2312-105del
XM_024454388.1:c.7238-110_7238-105del XP_024310156.1:n.7238-110_7238-105del
XM_024454389.1:c.6827-110_6827-105del XP_024310157.1:n.6827-110_6827-105del
XR_001742034.1:n.8350-110_8350-105del
XR_001742035.1:n.8350-110_8350-105del
NM_001369.3:c.8225-110_8225-105del MANE Select NP_001360.1:n.8225-110_8225-105del