Canonical Allele Identifier: CA1528430335

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13768980_13768981delinsCT , CM000667.2:g.13768980_13768981delinsCT	GRCh38
NC_000005.9:g.13769089_13769090delinsCT , CM000667.1:g.13769089_13769090delinsCT	GRCh37
NC_000005.8:g.13822089_13822090delinsCT	NCBI36
NG_013081.1:g.180500_180501delinsAG
NG_013081.2:g.180500_180501delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9876_9877delinsAG MANE Select	ENSP00000265104.4:p.Glu3292=
ENST00000681290.1:c.9831_9832delinsAG	ENSP00000505288.1:p.Glu3277=
ENST00000265104.4:c.9876_9877delinsAG	ENSP00000265104.4:p.Glu3292=
ENST00000504001.3:n.588_589delinsAG
NM_001369.2:c.9876_9877delinsAG	NP_001360.1:p.Glu3292=
XM_005248262.2:c.9831_9832delinsAG	XP_005248319.1:p.Glu3277=
XM_005248262.3:c.9984_9985delinsAG	XP_005248319.2:p.Glu3328=
XM_017009177.1:c.9984_9985delinsAG	XP_016864666.1:p.Glu3328=
XM_017009178.1:c.8889_8890delinsAG	XP_016864667.1:p.Glu2963=
XM_017009179.2:c.8889_8890delinsAG	XP_016864668.1:p.Glu2963=
XM_017009180.1:c.9984_9985delinsAG	XP_016864669.1:p.Glu3328=
XM_017009181.1:c.9984_9985delinsAG	XP_016864670.1:p.Glu3328=
XM_017009182.1:c.9984_9985delinsAG	XP_016864671.1:p.Glu3328=
XM_017009185.1:c.5073_5074delinsAG	XP_016864674.1:p.Glu1691=
XM_017009186.1:c.4626_4627delinsAG	XP_016864675.1:p.Glu1542=
XM_017009188.1:c.3963_3964delinsAG	XP_016864677.1:p.Glu1321=
XM_024454388.1:c.8889_8890delinsAG	XP_024310156.1:p.Glu2963=
XM_024454389.1:c.8478_8479delinsAG	XP_024310157.1:p.Glu2826=
NM_001369.3:c.9876_9877delinsAG MANE Select	NP_001360.1:p.Glu3292=