Canonical Allele Identifier: CA1528422774

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13751831_13751832delinsAG , CM000667.2:g.13751831_13751832delinsAG	GRCh38
NC_000005.9:g.13751940_13751941delinsAG , CM000667.1:g.13751940_13751941delinsAG	GRCh37
NC_000005.8:g.13804940_13804941delinsAG	NCBI36
NG_013081.1:g.197649_197650delinsCT
NG_013081.2:g.197649_197650delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.11028+302_11028+303delinsCT MANE Select	ENSP00000265104.4:n.11028+302_11028+303delinsCT
ENST00000681290.1:c.10983+302_10983+303delinsCT	ENSP00000505288.1:n.10983+302_10983+303delinsCT
ENST00000265104.4:c.11028+302_11028+303delinsCT	ENSP00000265104.4:n.11028+302_11028+303delinsCT
NM_001369.2:c.11028+302_11028+303delinsCT	NP_001360.1:n.11028+302_11028+303delinsCT
XM_005248262.2:c.10983+302_10983+303delinsCT	XP_005248319.1:n.10983+302_10983+303delinsCT
XM_005248262.3:c.11136+302_11136+303delinsCT	XP_005248319.2:n.11136+302_11136+303delinsCT
XM_017009177.1:c.11136+302_11136+303delinsCT	XP_016864666.1:n.11136+302_11136+303delinsCT
XM_017009178.1:c.10041+302_10041+303delinsCT	XP_016864667.1:n.10041+302_10041+303delinsCT
XM_017009179.2:c.10041+302_10041+303delinsCT	XP_016864668.1:n.10041+302_10041+303delinsCT
XM_017009180.1:c.11136+302_11136+303delinsCT	XP_016864669.1:n.11136+302_11136+303delinsCT
XM_017009181.1:c.11136+302_11136+303delinsCT	XP_016864670.1:n.11136+302_11136+303delinsCT
XM_017009182.1:c.11136+302_11136+303delinsCT	XP_016864671.1:n.11136+302_11136+303delinsCT
XM_017009185.1:c.6225+302_6225+303delinsCT	XP_016864674.1:n.6225+302_6225+303delinsCT
XM_017009186.1:c.5778+302_5778+303delinsCT	XP_016864675.1:n.5778+302_5778+303delinsCT
XM_017009188.1:c.5115+302_5115+303delinsCT	XP_016864677.1:n.5115+302_5115+303delinsCT
XM_024454388.1:c.10041+302_10041+303delinsCT	XP_024310156.1:n.10041+302_10041+303delinsCT
XM_024454389.1:c.9630+302_9630+303delinsCT	XP_024310157.1:n.9630+302_9630+303delinsCT
NM_001369.3:c.11028+302_11028+303delinsCT MANE Select	NP_001360.1:n.11028+302_11028+303delinsCT