Canonical Allele Identifier: CA1528440715
Gene: DNAH5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13791608_13791609delinsGT , CM000667.2:g.13791608_13791609delinsGT GRCh38
NC_000005.9:g.13791717_13791718delinsGT , CM000667.1:g.13791717_13791718delinsGT GRCh37
NC_000005.8:g.13844717_13844718delinsGT NCBI36
NG_013081.1:g.157872_157873delinsAC
NG_013081.2:g.157872_157873delinsAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000265104.5:c.8448+385_8448+386delinsAC MANE Select ENSP00000265104.4:n.8448+385_8448+386delinsAC
ENST00000681290.1:c.8403+385_8403+386delinsAC ENSP00000505288.1:n.8403+385_8403+386delinsAC
ENST00000265104.4:c.8448+385_8448+386delinsAC ENSP00000265104.4:n.8448+385_8448+386delinsAC
NM_001369.2:c.8448+385_8448+386delinsAC NP_001360.1:n.8448+385_8448+386delinsAC
XM_005248262.2:c.8403+385_8403+386delinsAC XP_005248319.1:n.8403+385_8403+386delinsAC
XM_011513990.1:c.8448+385_8448+386delinsAC XP_011512292.1:n.8448+385_8448+386delinsAC
XR_925598.1:n.8655+385_8655+386delinsAC
XM_005248262.3:c.8556+385_8556+386delinsAC XP_005248319.2:n.8556+385_8556+386delinsAC
XM_017009177.1:c.8556+385_8556+386delinsAC XP_016864666.1:n.8556+385_8556+386delinsAC
XM_017009178.1:c.7461+385_7461+386delinsAC XP_016864667.1:n.7461+385_7461+386delinsAC
XM_017009179.2:c.7461+385_7461+386delinsAC XP_016864668.1:n.7461+385_7461+386delinsAC
XM_017009180.1:c.8556+385_8556+386delinsAC XP_016864669.1:n.8556+385_8556+386delinsAC
XM_017009181.1:c.8556+385_8556+386delinsAC XP_016864670.1:n.8556+385_8556+386delinsAC
XM_017009182.1:c.8556+385_8556+386delinsAC XP_016864671.1:n.8556+385_8556+386delinsAC
XM_017009183.1:c.8556+385_8556+386delinsAC XP_016864672.1:n.8556+385_8556+386delinsAC
XM_017009184.1:c.8556+385_8556+386delinsAC XP_016864673.1:n.8556+385_8556+386delinsAC
XM_017009185.1:c.3645+385_3645+386delinsAC XP_016864674.1:n.3645+385_3645+386delinsAC
XM_017009186.1:c.3198+385_3198+386delinsAC XP_016864675.1:n.3198+385_3198+386delinsAC
XM_017009188.1:c.2535+385_2535+386delinsAC XP_016864677.1:n.2535+385_2535+386delinsAC
XM_024454388.1:c.7461+385_7461+386delinsAC XP_024310156.1:n.7461+385_7461+386delinsAC
XM_024454389.1:c.7050+385_7050+386delinsAC XP_024310157.1:n.7050+385_7050+386delinsAC
XR_001742034.1:n.8573+385_8573+386delinsAC
XR_001742035.1:n.8573+385_8573+386delinsAC
NM_001369.3:c.8448+385_8448+386delinsAC MANE Select NP_001360.1:n.8448+385_8448+386delinsAC