Canonical Allele Identifier: CA3203638

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 407241
• ClinVar RCV Id: RCV000475541 ; RCV001198865
• dbSNP Id: rs752925056
• ExAC: 5:13841160 A / AT
• gnomAD v2: 5-13841160-A-AT
• gnomAD v3: 5-13841051-A-AT
• gnomAD v4: 5-13841051-A-AT
• COSMIC: COSM4614341
• MyVariant Identifiers: chr5:g.13841161dupT (hg19) ; chr5:g.13841161_13841162insT (hg19) ; chr5:g.13841160_13841161insT (hg19) ; chr5:g.13841052dupT (hg38) ; chr5:g.13841052_13841053insT (hg38) ; chr5:g.13841051_13841052insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13841058dup , CM000667.2:g.13841058dup	GRCh38
NC_000005.9:g.13841167dup , CM000667.1:g.13841167dup	GRCh37
NC_000005.8:g.13894167dup	NCBI36
NG_013081.1:g.108429dup
NG_013081.2:g.108429dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.5563dup MANE Select	ENSP00000265104.4:p.Ile1855AsnfsTer6
ENST00000681290.1:c.5518dup	ENSP00000505288.1:p.Ile1840AsnfsTer6
ENST00000265104.4:c.5563dup	ENSP00000265104.4:p.Ile1855AsnfsTer6
NM_001369.2:c.5563dup	NP_001360.1:p.Ile1855AsnfsTer6
XM_005248262.2:c.5518dup	XP_005248319.1:p.Ile1840AsnfsTer6
XM_011513990.1:c.5563dup	XP_011512292.1:p.Ile1855AsnfsTer6
XR_925598.1:n.5770dup
XM_005248262.3:c.5671dup	XP_005248319.2:p.Ile1891AsnfsTer6
XM_017009177.1:c.5671dup	XP_016864666.1:p.Ile1891AsnfsTer6
XM_017009178.1:c.4576dup	XP_016864667.1:p.Ile1526AsnfsTer6
XM_017009179.2:c.4576dup	XP_016864668.1:p.Ile1526AsnfsTer6
XM_017009180.1:c.5671dup	XP_016864669.1:p.Ile1891AsnfsTer6
XM_017009181.1:c.5671dup	XP_016864670.1:p.Ile1891AsnfsTer6
XM_017009182.1:c.5671dup	XP_016864671.1:p.Ile1891AsnfsTer6
XM_017009183.1:c.5671dup	XP_016864672.1:p.Ile1891AsnfsTer6
XM_017009184.1:c.5671dup	XP_016864673.1:p.Ile1891AsnfsTer6
XM_017009185.1:c.760dup	XP_016864674.1:p.Ile254AsnfsTer6
XM_017009186.1:c.313dup	XP_016864675.1:p.Ile105AsnfsTer6
XM_017009187.1:c.5671dup	XP_016864676.1:p.Ile1891AsnfsTer6
XM_024454388.1:c.4576dup	XP_024310156.1:p.Ile1526AsnfsTer6
XM_024454389.1:c.4165dup	XP_024310157.1:p.Ile1389AsnfsTer6
XR_001742034.1:n.5688dup
XR_001742035.1:n.5688dup
NM_001369.3:c.5563dup MANE Select	NP_001360.1:p.Ile1855AsnfsTer6