Canonical Allele Identifier: CA2765350518

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13870931_13870932insATATTGGTGATGGCAAGTTCATCAGCGCCACTTCCAGTCGTGGTGTAGCAGTAGCAGA , CM000667.2:g.13870931_13870932insATATTGGTGATGGCAAGTTCATCAGCGCCACTTCCAGTCGTGGTGTAGCAGTAGCAGA	GRCh38
NC_000005.9:g.13871040_13871041insATATTGGTGATGGCAAGTTCATCAGCGCCACTTCCAGTCGTGGTGTAGCAGTAGCAGA , CM000667.1:g.13871040_13871041insATATTGGTGATGGCAAGTTCATCAGCGCCACTTCCAGTCGTGGTGTAGCAGTAGCAGA	GRCh37
NC_000005.8:g.13924040_13924041insATATTGGTGATGGCAAGTTCATCAGCGCCACTTCCAGTCGTGGTGTAGCAGTAGCAGA	NCBI36
NG_013081.1:g.78549_78550insTCTGCTACTGCTACACCACGACTGGAAGTGGCGCTGATGAACTTGCCATCACCAATAT
NG_013081.2:g.78549_78550insTCTGCTACTGCTACACCACGACTGGAAGTGGCGCTGATGAACTTGCCATCACCAATAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.3669_3670insTCTGCTACTGCTACACCACGACTGGAAGTGGCGCTGATGAACTTGCCATCACCAATAT MANE Select	ENSP00000265104.4:p.Lys1224SerfsTer20
ENST00000681290.1:c.3624_3625insTCTGCTACTGCTACACCACGACTGGAAGTGGCGCTGATGAACTTGCCATCACCAATAT	ENSP00000505288.1:p.Lys1209SerfsTer20
ENST00000265104.4:c.3669_3670insTCTGCTACTGCTACACCACGACTGGAAGTGGCGCTGATGAACTTGCCATCACCAATAT	ENSP00000265104.4:p.Lys1224SerfsTer20
NM_001369.2:c.3669_3670insTCTGCTACTGCTACACCACGACTGGAAGTGGCGCTGATGAACTTGCCATCACCAATAT	NP_001360.1:p.Lys1224SerfsTer20
XM_005248262.2:c.3624_3625insTCTGCTACTGCTACACCACGACTGGAAGTGGCGCTGATGAACTTGCCATCACCAATAT	XP_005248319.1:p.Lys1209SerfsTer20
XM_011513990.1:c.3669_3670insTCTGCTACTGCTACACCACGACTGGAAGTGGCGCTGATGAACTTGCCATCACCAATAT	XP_011512292.1:p.Lys1224SerfsTer20
XR_925598.1:n.3876_3877insTCTGCTACTGCTACACCACGACTGGAAGTGGCGCTGATGAACTTGCCATCACCAATAT
XM_005248262.3:c.3777_3778insTCTGCTACTGCTACACCACGACTGGAAGTGGCGCTGATGAACTTGCCATCACCAATAT	XP_005248319.2:p.Lys1260SerfsTer20
XM_017009177.1:c.3777_3778insTCTGCTACTGCTACACCACGACTGGAAGTGGCGCTGATGAACTTGCCATCACCAATAT	XP_016864666.1:p.Lys1260SerfsTer20
XM_017009178.1:c.2682_2683insTCTGCTACTGCTACACCACGACTGGAAGTGGCGCTGATGAACTTGCCATCACCAATAT	XP_016864667.1:p.Lys895SerfsTer20
XM_017009179.2:c.2682_2683insTCTGCTACTGCTACACCACGACTGGAAGTGGCGCTGATGAACTTGCCATCACCAATAT	XP_016864668.1:p.Lys895SerfsTer20
XM_017009180.1:c.3777_3778insTCTGCTACTGCTACACCACGACTGGAAGTGGCGCTGATGAACTTGCCATCACCAATAT	XP_016864669.1:p.Lys1260SerfsTer20
XM_017009181.1:c.3777_3778insTCTGCTACTGCTACACCACGACTGGAAGTGGCGCTGATGAACTTGCCATCACCAATAT	XP_016864670.1:p.Lys1260SerfsTer20
XM_017009182.1:c.3777_3778insTCTGCTACTGCTACACCACGACTGGAAGTGGCGCTGATGAACTTGCCATCACCAATAT	XP_016864671.1:p.Lys1260SerfsTer20
XM_017009183.1:c.3777_3778insTCTGCTACTGCTACACCACGACTGGAAGTGGCGCTGATGAACTTGCCATCACCAATAT	XP_016864672.1:p.Lys1260SerfsTer20
XM_017009184.1:c.3777_3778insTCTGCTACTGCTACACCACGACTGGAAGTGGCGCTGATGAACTTGCCATCACCAATAT	XP_016864673.1:p.Lys1260SerfsTer20
XM_017009187.1:c.3777_3778insTCTGCTACTGCTACACCACGACTGGAAGTGGCGCTGATGAACTTGCCATCACCAATAT	XP_016864676.1:p.Lys1260SerfsTer20
XM_024454388.1:c.2682_2683insTCTGCTACTGCTACACCACGACTGGAAGTGGCGCTGATGAACTTGCCATCACCAATAT	XP_024310156.1:p.Lys895SerfsTer20
XM_024454389.1:c.2271_2272insTCTGCTACTGCTACACCACGACTGGAAGTGGCGCTGATGAACTTGCCATCACCAATAT	XP_024310157.1:p.Lys758SerfsTer20
XR_001742034.1:n.3794_3795insTCTGCTACTGCTACACCACGACTGGAAGTGGCGCTGATGAACTTGCCATCACCAATAT
XR_001742035.1:n.3794_3795insTCTGCTACTGCTACACCACGACTGGAAGTGGCGCTGATGAACTTGCCATCACCAATAT
NM_001369.3:c.3669_3670insTCTGCTACTGCTACACCACGACTGGAAGTGGCGCTGATGAACTTGCCATCACCAATAT MANE Select	NP_001360.1:p.Lys1224SerfsTer20