Canonical Allele Identifier: CA1528476195

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13866202_13866203delinsAG , CM000667.2:g.13866202_13866203delinsAG	GRCh38
NC_000005.9:g.13866311_13866312delinsAG , CM000667.1:g.13866311_13866312delinsAG	GRCh37
NC_000005.8:g.13919311_13919312delinsAG	NCBI36
NG_013081.1:g.83278_83279delinsCT
NG_013081.2:g.83278_83279delinsCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000265104.5:c.4116+17_4116+18delinsCT MANE Select	ENSP00000265104.4:n.4116+17_4116+18delins...
ENST00000681290.1:c.4071+17_4071+18delinsCT	ENSP00000505288.1:n.4071+17_4071+18delins...
ENST00000265104.4:c.4116+17_4116+18delinsCT	ENSP00000265104.4:n.4116+17_4116+18delins...
NM_001369.2:c.4116+17_4116+18delinsCT	NP_001360.1:n.4116+17_4116+18delinsCT
XM_005248262.2:c.4071+17_4071+18delinsCT	XP_005248319.1:n.4071+17_4071+18delinsCT
XM_011513990.1:c.4116+17_4116+18delinsCT	XP_011512292.1:n.4116+17_4116+18delinsCT
XR_925598.1:n.4323+17_4323+18delinsCT
XM_005248262.3:c.4224+17_4224+18delinsCT	XP_005248319.2:n.4224+17_4224+18delinsCT
XM_017009177.1:c.4224+17_4224+18delinsCT	XP_016864666.1:n.4224+17_4224+18delinsCT
XM_017009178.1:c.3129+17_3129+18delinsCT	XP_016864667.1:n.3129+17_3129+18delinsCT
XM_017009179.2:c.3129+17_3129+18delinsCT	XP_016864668.1:n.3129+17_3129+18delinsCT
XM_017009180.1:c.4224+17_4224+18delinsCT	XP_016864669.1:n.4224+17_4224+18delinsCT
XM_017009181.1:c.4224+17_4224+18delinsCT	XP_016864670.1:n.4224+17_4224+18delinsCT
XM_017009182.1:c.4224+17_4224+18delinsCT	XP_016864671.1:n.4224+17_4224+18delinsCT
XM_017009183.1:c.4224+17_4224+18delinsCT	XP_016864672.1:n.4224+17_4224+18delinsCT
XM_017009184.1:c.4224+17_4224+18delinsCT	XP_016864673.1:n.4224+17_4224+18delinsCT
XM_017009187.1:c.4224+17_4224+18delinsCT	XP_016864676.1:n.4224+17_4224+18delinsCT
XM_024454388.1:c.3129+17_3129+18delinsCT	XP_024310156.1:n.3129+17_3129+18delinsCT
XM_024454389.1:c.2718+17_2718+18delinsCT	XP_024310157.1:n.2718+17_2718+18delinsCT
XR_001742034.1:n.4241+17_4241+18delinsCT
XR_001742035.1:n.4241+17_4241+18delinsCT
NM_001369.3:c.4116+17_4116+18delinsCT MANE Select	NP_001360.1:n.4116+17_4116+18delinsCT