Canonical Allele Identifier: CA1528441874

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13794044_13794048delinsGCTCT , CM000667.2:g.13794044_13794048delinsGCTCT	GRCh38
NC_000005.9:g.13794153_13794157delinsGCTCT , CM000667.1:g.13794153_13794157delinsGCTCT	GRCh37
NC_000005.8:g.13847153_13847157delinsGCTCT	NCBI36
NG_013081.1:g.155433_155437delinsAGAGC
NG_013081.2:g.155433_155437delinsAGAGC

Transcript Alleles

HGVS	Amino-acid change
ENST00000265104.5:c.7898_7902delinsAGAGC MANE Select	ENSP00000265104.4:p.Glu2633=
ENST00000681290.1:c.7853_7857delinsAGAGC	ENSP00000505288.1:p.Glu2618=
ENST00000265104.4:c.7898_7902delinsAGAGC	ENSP00000265104.4:p.Glu2633=
NM_001369.2:c.7898_7902delinsAGAGC	NP_001360.1:p.Glu2633=
XM_005248262.2:c.7853_7857delinsAGAGC	XP_005248319.1:p.Glu2618=
XM_011513990.1:c.7898_7902delinsAGAGC	XP_011512292.1:p.Glu2633=
XR_925598.1:n.8105_8109delinsAGAGC
XM_005248262.3:c.8006_8010delinsAGAGC	XP_005248319.2:p.Glu2669=
XM_017009177.1:c.8006_8010delinsAGAGC	XP_016864666.1:p.Glu2669=
XM_017009178.1:c.6911_6915delinsAGAGC	XP_016864667.1:p.Glu2304=
XM_017009179.2:c.6911_6915delinsAGAGC	XP_016864668.1:p.Glu2304=
XM_017009180.1:c.8006_8010delinsAGAGC	XP_016864669.1:p.Glu2669=
XM_017009181.1:c.8006_8010delinsAGAGC	XP_016864670.1:p.Glu2669=
XM_017009182.1:c.8006_8010delinsAGAGC	XP_016864671.1:p.Glu2669=
XM_017009183.1:c.8006_8010delinsAGAGC	XP_016864672.1:p.Glu2669=
XM_017009184.1:c.8006_8010delinsAGAGC	XP_016864673.1:p.Glu2669=
XM_017009185.1:c.3095_3099delinsAGAGC	XP_016864674.1:p.Glu1032=
XM_017009186.1:c.2648_2652delinsAGAGC	XP_016864675.1:p.Glu883=
XM_017009187.1:c.*1_*5delinsAGAGC	XP_016864676.1:n.*1_*5delinsAGAGC
XM_017009188.1:c.1985_1989delinsAGAGC	XP_016864677.1:p.Glu662=
XM_024454388.1:c.6911_6915delinsAGAGC	XP_024310156.1:p.Glu2304=
XM_024454389.1:c.6500_6504delinsAGAGC	XP_024310157.1:p.Glu2167=
XR_001742034.1:n.8023_8027delinsAGAGC
XR_001742035.1:n.8023_8027delinsAGAGC
NM_001369.3:c.7898_7902delinsAGAGC MANE Select	NP_001360.1:p.Glu2633=