Canonical Allele Identifier: CA2765347242

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13717498_13717499insGGACCTCCTAGCTTTGGCGTAAATTATATAAGAGAATT , CM000667.2:g.13717498_13717499insGGACCTCCTAGCTTTGGCGTAAATTATATAAGAGAATT	GRCh38
NC_000005.9:g.13717607_13717608insGGACCTCCTAGCTTTGGCGTAAATTATATAAGAGAATT , CM000667.1:g.13717607_13717608insGGACCTCCTAGCTTTGGCGTAAATTATATAAGAGAATT	GRCh37
NC_000005.8:g.13770607_13770608insGGACCTCCTAGCTTTGGCGTAAATTATATAAGAGAATT	NCBI36
NG_013081.1:g.231982_231983insAATTCTCTTATATAATTTACGCCAAAGCTAGGAGGTCC
NG_013081.2:g.231982_231983insAATTCTCTTATATAATTTACGCCAAAGCTAGGAGGTCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.12521_12522insAATTCTCTTATATAATTTACGCCAAAGCTAGGAGGTCC MANE Select	ENSP00000265104.4:p.Asp4174GlufsTer11
ENST00000681290.1:c.12476_12477insAATTCTCTTATATAATTTACGCCAAAGCTAGGAGGTCC	ENSP00000505288.1:p.Asp4159GlufsTer11
ENST00000265104.4:c.12521_12522insAATTCTCTTATATAATTTACGCCAAAGCTAGGAGGTCC	ENSP00000265104.4:p.Asp4174GlufsTer11
NM_001369.2:c.12521_12522insAATTCTCTTATATAATTTACGCCAAAGCTAGGAGGTCC	NP_001360.1:p.Asp4174GlufsTer11
XM_005248262.2:c.12476_12477insAATTCTCTTATATAATTTACGCCAAAGCTAGGAGGTCC	XP_005248319.1:p.Asp4159GlufsTer11
XM_005248262.3:c.12629_12630insAATTCTCTTATATAATTTACGCCAAAGCTAGGAGGTCC	XP_005248319.2:p.Asp4210GlufsTer11
XM_017009177.1:c.12629_12630insAATTCTCTTATATAATTTACGCCAAAGCTAGGAGGTCC	XP_016864666.1:p.Asp4210GlufsTer11
XM_017009178.1:c.11534_11535insAATTCTCTTATATAATTTACGCCAAAGCTAGGAGGTCC	XP_016864667.1:p.Asp3845GlufsTer11
XM_017009179.2:c.11534_11535insAATTCTCTTATATAATTTACGCCAAAGCTAGGAGGTCC	XP_016864668.1:p.Asp3845GlufsTer11
XM_017009180.1:c.12629_12630insAATTCTCTTATATAATTTACGCCAAAGCTAGGAGGTCC	XP_016864669.1:p.Asp4210GlufsTer11
XM_017009185.1:c.7718_7719insAATTCTCTTATATAATTTACGCCAAAGCTAGGAGGTCC	XP_016864674.1:p.Asp2573GlufsTer11
XM_017009186.1:c.7271_7272insAATTCTCTTATATAATTTACGCCAAAGCTAGGAGGTCC	XP_016864675.1:p.Asp2424GlufsTer11
XM_017009188.1:c.6608_6609insAATTCTCTTATATAATTTACGCCAAAGCTAGGAGGTCC	XP_016864677.1:p.Asp2203GlufsTer11
XM_024454388.1:c.11534_11535insAATTCTCTTATATAATTTACGCCAAAGCTAGGAGGTCC	XP_024310156.1:p.Asp3845GlufsTer11
XM_024454389.1:c.11123_11124insAATTCTCTTATATAATTTACGCCAAAGCTAGGAGGTCC	XP_024310157.1:p.Asp3708GlufsTer11
NM_001369.3:c.12521_12522insAATTCTCTTATATAATTTACGCCAAAGCTAGGAGGTCC MANE Select	NP_001360.1:p.Asp4174GlufsTer11