Canonical Allele Identifier: CA1528440836

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13791825_13791827delinsTTC , CM000667.2:g.13791825_13791827delinsTTC	GRCh38
NC_000005.9:g.13791934_13791936delinsTTC , CM000667.1:g.13791934_13791936delinsTTC	GRCh37
NC_000005.8:g.13844934_13844936delinsTTC	NCBI36
NG_013081.1:g.157654_157656delinsGAA
NG_013081.2:g.157654_157656delinsGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.8448+167_8448+169delinsGAA MANE Select	ENSP00000265104.4:n.8448+167_8448+169delinsGAA
ENST00000681290.1:c.8403+167_8403+169delinsGAA	ENSP00000505288.1:n.8403+167_8403+169delinsGAA
ENST00000265104.4:c.8448+167_8448+169delinsGAA	ENSP00000265104.4:n.8448+167_8448+169delinsGAA
NM_001369.2:c.8448+167_8448+169delinsGAA	NP_001360.1:n.8448+167_8448+169delinsGAA
XM_005248262.2:c.8403+167_8403+169delinsGAA	XP_005248319.1:n.8403+167_8403+169delinsGAA
XM_011513990.1:c.8448+167_8448+169delinsGAA	XP_011512292.1:n.8448+167_8448+169delinsGAA
XR_925598.1:n.8655+167_8655+169delinsGAA
XM_005248262.3:c.8556+167_8556+169delinsGAA	XP_005248319.2:n.8556+167_8556+169delinsGAA
XM_017009177.1:c.8556+167_8556+169delinsGAA	XP_016864666.1:n.8556+167_8556+169delinsGAA
XM_017009178.1:c.7461+167_7461+169delinsGAA	XP_016864667.1:n.7461+167_7461+169delinsGAA
XM_017009179.2:c.7461+167_7461+169delinsGAA	XP_016864668.1:n.7461+167_7461+169delinsGAA
XM_017009180.1:c.8556+167_8556+169delinsGAA	XP_016864669.1:n.8556+167_8556+169delinsGAA
XM_017009181.1:c.8556+167_8556+169delinsGAA	XP_016864670.1:n.8556+167_8556+169delinsGAA
XM_017009182.1:c.8556+167_8556+169delinsGAA	XP_016864671.1:n.8556+167_8556+169delinsGAA
XM_017009183.1:c.8556+167_8556+169delinsGAA	XP_016864672.1:n.8556+167_8556+169delinsGAA
XM_017009184.1:c.8556+167_8556+169delinsGAA	XP_016864673.1:n.8556+167_8556+169delinsGAA
XM_017009185.1:c.3645+167_3645+169delinsGAA	XP_016864674.1:n.3645+167_3645+169delinsGAA
XM_017009186.1:c.3198+167_3198+169delinsGAA	XP_016864675.1:n.3198+167_3198+169delinsGAA
XM_017009188.1:c.2535+167_2535+169delinsGAA	XP_016864677.1:n.2535+167_2535+169delinsGAA
XM_024454388.1:c.7461+167_7461+169delinsGAA	XP_024310156.1:n.7461+167_7461+169delinsGAA
XM_024454389.1:c.7050+167_7050+169delinsGAA	XP_024310157.1:n.7050+167_7050+169delinsGAA
XR_001742034.1:n.8573+167_8573+169delinsGAA
XR_001742035.1:n.8573+167_8573+169delinsGAA
NM_001369.3:c.8448+167_8448+169delinsGAA MANE Select	NP_001360.1:n.8448+167_8448+169delinsGAA