Canonical Allele Identifier: CA2673279624

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13901481-G-GGGTGATCTGCCAGTCTCAGCCTCCCAAAGTGCTGGGAT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13901481_13901482insGGTGATCTGCCAGTCTCAGCCTCCCAAAGTGCTGGGAT , CM000667.2:g.13901481_13901482insGGTGATCTGCCAGTCTCAGCCTCCCAAAGTGCTGGGAT	GRCh38
NC_000005.9:g.13901590_13901591insGGTGATCTGCCAGTCTCAGCCTCCCAAAGTGCTGGGAT , CM000667.1:g.13901590_13901591insGGTGATCTGCCAGTCTCAGCCTCCCAAAGTGCTGGGAT	GRCh37
NC_000005.8:g.13954590_13954591insGGTGATCTGCCAGTCTCAGCCTCCCAAAGTGCTGGGAT	NCBI36
NG_013081.1:g.47999_48000insATCCCAGCACTTTGGGAGGCTGAGACTGGCAGATCACC
NG_013081.2:g.47999_48000insATCCCAGCACTTTGGGAGGCTGAGACTGGCAGATCACC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.1822_1823insATCCCAGCACTTTGGGAGGCTGAGACTGGCAGATCACC MANE Select	ENSP00000265104.4:p.Thr608AsnfsTer8
ENST00000681290.1:c.1777_1778insATCCCAGCACTTTGGGAGGCTGAGACTGGCAGATCACC	ENSP00000505288.1:p.Thr593AsnfsTer8
ENST00000265104.4:c.1822_1823insATCCCAGCACTTTGGGAGGCTGAGACTGGCAGATCACC	ENSP00000265104.4:p.Thr608AsnfsTer8
NM_001369.2:c.1822_1823insATCCCAGCACTTTGGGAGGCTGAGACTGGCAGATCACC	NP_001360.1:p.Thr608AsnfsTer8
XM_005248262.2:c.1777_1778insATCCCAGCACTTTGGGAGGCTGAGACTGGCAGATCACC	XP_005248319.1:p.Thr593AsnfsTer8
XM_011513990.1:c.1822_1823insATCCCAGCACTTTGGGAGGCTGAGACTGGCAGATCACC	XP_011512292.1:p.Thr608AsnfsTer8
XR_925598.1:n.2029_2030insATCCCAGCACTTTGGGAGGCTGAGACTGGCAGATCACC
XM_005248262.3:c.1930_1931insATCCCAGCACTTTGGGAGGCTGAGACTGGCAGATCACC	XP_005248319.2:p.Thr644AsnfsTer8
XM_017009177.1:c.1930_1931insATCCCAGCACTTTGGGAGGCTGAGACTGGCAGATCACC	XP_016864666.1:p.Thr644AsnfsTer8
XM_017009178.1:c.835_836insATCCCAGCACTTTGGGAGGCTGAGACTGGCAGATCACC	XP_016864667.1:p.Thr279AsnfsTer8
XM_017009179.2:c.835_836insATCCCAGCACTTTGGGAGGCTGAGACTGGCAGATCACC	XP_016864668.1:p.Thr279AsnfsTer8
XM_017009180.1:c.1930_1931insATCCCAGCACTTTGGGAGGCTGAGACTGGCAGATCACC	XP_016864669.1:p.Thr644AsnfsTer8
XM_017009181.1:c.1930_1931insATCCCAGCACTTTGGGAGGCTGAGACTGGCAGATCACC	XP_016864670.1:p.Thr644AsnfsTer8
XM_017009182.1:c.1930_1931insATCCCAGCACTTTGGGAGGCTGAGACTGGCAGATCACC	XP_016864671.1:p.Thr644AsnfsTer8
XM_017009183.1:c.1930_1931insATCCCAGCACTTTGGGAGGCTGAGACTGGCAGATCACC	XP_016864672.1:p.Thr644AsnfsTer8
XM_017009184.1:c.1930_1931insATCCCAGCACTTTGGGAGGCTGAGACTGGCAGATCACC	XP_016864673.1:p.Thr644AsnfsTer8
XM_017009187.1:c.1930_1931insATCCCAGCACTTTGGGAGGCTGAGACTGGCAGATCACC	XP_016864676.1:p.Thr644AsnfsTer8
XM_024454388.1:c.835_836insATCCCAGCACTTTGGGAGGCTGAGACTGGCAGATCACC	XP_024310156.1:p.Thr279AsnfsTer8
XM_024454389.1:c.424_425insATCCCAGCACTTTGGGAGGCTGAGACTGGCAGATCACC	XP_024310157.1:p.Thr142AsnfsTer8
XR_001742034.1:n.1947_1948insATCCCAGCACTTTGGGAGGCTGAGACTGGCAGATCACC
XR_001742035.1:n.1947_1948insATCCCAGCACTTTGGGAGGCTGAGACTGGCAGATCACC
NM_001369.3:c.1822_1823insATCCCAGCACTTTGGGAGGCTGAGACTGGCAGATCACC MANE Select	NP_001360.1:p.Thr608AsnfsTer8