Canonical Allele Identifier: CA1528440781
Gene: DNAH5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13791735_13791736delinsCT , CM000667.2:g.13791735_13791736delinsCT GRCh38
NC_000005.9:g.13791844_13791845delinsCT , CM000667.1:g.13791844_13791845delinsCT GRCh37
NC_000005.8:g.13844844_13844845delinsCT NCBI36
NG_013081.1:g.157745_157746delinsAG
NG_013081.2:g.157745_157746delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000265104.5:c.8448+258_8448+259delinsAG MANE Select ENSP00000265104.4:n.8448+258_8448+259delinsAG
ENST00000681290.1:c.8403+258_8403+259delinsAG ENSP00000505288.1:n.8403+258_8403+259delinsAG
ENST00000265104.4:c.8448+258_8448+259delinsAG ENSP00000265104.4:n.8448+258_8448+259delinsAG
NM_001369.2:c.8448+258_8448+259delinsAG NP_001360.1:n.8448+258_8448+259delinsAG
XM_005248262.2:c.8403+258_8403+259delinsAG XP_005248319.1:n.8403+258_8403+259delinsAG
XM_011513990.1:c.8448+258_8448+259delinsAG XP_011512292.1:n.8448+258_8448+259delinsAG
XR_925598.1:n.8655+258_8655+259delinsAG
XM_005248262.3:c.8556+258_8556+259delinsAG XP_005248319.2:n.8556+258_8556+259delinsAG
XM_017009177.1:c.8556+258_8556+259delinsAG XP_016864666.1:n.8556+258_8556+259delinsAG
XM_017009178.1:c.7461+258_7461+259delinsAG XP_016864667.1:n.7461+258_7461+259delinsAG
XM_017009179.2:c.7461+258_7461+259delinsAG XP_016864668.1:n.7461+258_7461+259delinsAG
XM_017009180.1:c.8556+258_8556+259delinsAG XP_016864669.1:n.8556+258_8556+259delinsAG
XM_017009181.1:c.8556+258_8556+259delinsAG XP_016864670.1:n.8556+258_8556+259delinsAG
XM_017009182.1:c.8556+258_8556+259delinsAG XP_016864671.1:n.8556+258_8556+259delinsAG
XM_017009183.1:c.8556+258_8556+259delinsAG XP_016864672.1:n.8556+258_8556+259delinsAG
XM_017009184.1:c.8556+258_8556+259delinsAG XP_016864673.1:n.8556+258_8556+259delinsAG
XM_017009185.1:c.3645+258_3645+259delinsAG XP_016864674.1:n.3645+258_3645+259delinsAG
XM_017009186.1:c.3198+258_3198+259delinsAG XP_016864675.1:n.3198+258_3198+259delinsAG
XM_017009188.1:c.2535+258_2535+259delinsAG XP_016864677.1:n.2535+258_2535+259delinsAG
XM_024454388.1:c.7461+258_7461+259delinsAG XP_024310156.1:n.7461+258_7461+259delinsAG
XM_024454389.1:c.7050+258_7050+259delinsAG XP_024310157.1:n.7050+258_7050+259delinsAG
XR_001742034.1:n.8573+258_8573+259delinsAG
XR_001742035.1:n.8573+258_8573+259delinsAG
NM_001369.3:c.8448+258_8448+259delinsAG MANE Select NP_001360.1:n.8448+258_8448+259delinsAG