Canonical Allele Identifier: CA1528485794
Gene: DNAH5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13901245_13901246delinsGA , CM000667.2:g.13901245_13901246delinsGA GRCh38
NC_000005.9:g.13901354_13901355delinsGA , CM000667.1:g.13901354_13901355delinsGA GRCh37
NC_000005.8:g.13954354_13954355delinsGA NCBI36
NG_013081.1:g.48235_48236delinsTC
NG_013081.2:g.48235_48236delinsTC

Transcript Alleles

HGVS Amino-acid change
ENST00000265104.5:c.2052+6_2052+7delinsTC MANE Select ENSP00000265104.4:n.2052+6_2052+7delinsTC...
ENST00000681290.1:c.2007+6_2007+7delinsTC ENSP00000505288.1:n.2007+6_2007+7delinsTC...
ENST00000265104.4:c.2052+6_2052+7delinsTC ENSP00000265104.4:n.2052+6_2052+7delinsTC...
NM_001369.2:c.2052+6_2052+7delinsTC NP_001360.1:n.2052+6_2052+7delinsTC
XM_005248262.2:c.2007+6_2007+7delinsTC XP_005248319.1:n.2007+6_2007+7delinsTC
XM_011513990.1:c.2052+6_2052+7delinsTC XP_011512292.1:n.2052+6_2052+7delinsTC
XR_925598.1:n.2259+6_2259+7delinsTC
XM_005248262.3:c.2160+6_2160+7delinsTC XP_005248319.2:n.2160+6_2160+7delinsTC
XM_017009177.1:c.2160+6_2160+7delinsTC XP_016864666.1:n.2160+6_2160+7delinsTC
XM_017009178.1:c.1065+6_1065+7delinsTC XP_016864667.1:n.1065+6_1065+7delinsTC
XM_017009179.2:c.1065+6_1065+7delinsTC XP_016864668.1:n.1065+6_1065+7delinsTC
XM_017009180.1:c.2160+6_2160+7delinsTC XP_016864669.1:n.2160+6_2160+7delinsTC
XM_017009181.1:c.2160+6_2160+7delinsTC XP_016864670.1:n.2160+6_2160+7delinsTC
XM_017009182.1:c.2160+6_2160+7delinsTC XP_016864671.1:n.2160+6_2160+7delinsTC
XM_017009183.1:c.2160+6_2160+7delinsTC XP_016864672.1:n.2160+6_2160+7delinsTC
XM_017009184.1:c.2160+6_2160+7delinsTC XP_016864673.1:n.2160+6_2160+7delinsTC
XM_017009187.1:c.2160+6_2160+7delinsTC XP_016864676.1:n.2160+6_2160+7delinsTC
XM_024454388.1:c.1065+6_1065+7delinsTC XP_024310156.1:n.1065+6_1065+7delinsTC
XM_024454389.1:c.654+6_654+7delinsTC XP_024310157.1:n.654+6_654+7delinsTC
XR_001742034.1:n.2177+6_2177+7delinsTC
XR_001742035.1:n.2177+6_2177+7delinsTC
NM_001369.3:c.2052+6_2052+7delinsTC MANE Select NP_001360.1:n.2052+6_2052+7delinsTC