Canonical Allele Identifier: CA2580072171

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 1724867
• ClinVar RCV Id: RCV002307926

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13890988_13890996delinsTT , CM000667.2:g.13890988_13890996delinsTT	GRCh38
NC_000005.9:g.13891097_13891105delinsTT , CM000667.1:g.13891097_13891105delinsTT	GRCh37
NC_000005.8:g.13944097_13944105delinsTT	NCBI36
NG_013081.1:g.58485_58493delinsAA
NG_013081.2:g.58485_58493delinsAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000265104.5:c.2557_2565delinsAA MANE Select	ENSP00000265104.4:p.Glu853AsnfsTer3
ENST00000681290.1:c.2512_2520delinsAA	ENSP00000505288.1:p.Glu838AsnfsTer3
ENST00000265104.4:c.2557_2565delinsAA	ENSP00000265104.4:p.Glu853AsnfsTer3
NM_001369.2:c.2557_2565delinsAA	NP_001360.1:p.Glu853AsnfsTer3
XM_005248262.2:c.2512_2520delinsAA	XP_005248319.1:p.Glu838AsnfsTer3
XM_011513990.1:c.2557_2565delinsAA	XP_011512292.1:p.Glu853AsnfsTer3
XR_925598.1:n.2764_2772delinsAA
XM_005248262.3:c.2665_2673delinsAA	XP_005248319.2:p.Glu889AsnfsTer3
XM_017009177.1:c.2665_2673delinsAA	XP_016864666.1:p.Glu889AsnfsTer3
XM_017009178.1:c.1570_1578delinsAA	XP_016864667.1:p.Glu524AsnfsTer3
XM_017009179.2:c.1570_1578delinsAA	XP_016864668.1:p.Glu524AsnfsTer3
XM_017009180.1:c.2665_2673delinsAA	XP_016864669.1:p.Glu889AsnfsTer3
XM_017009181.1:c.2665_2673delinsAA	XP_016864670.1:p.Glu889AsnfsTer3
XM_017009182.1:c.2665_2673delinsAA	XP_016864671.1:p.Glu889AsnfsTer3
XM_017009183.1:c.2665_2673delinsAA	XP_016864672.1:p.Glu889AsnfsTer3
XM_017009184.1:c.2665_2673delinsAA	XP_016864673.1:p.Glu889AsnfsTer3
XM_017009187.1:c.2665_2673delinsAA	XP_016864676.1:p.Glu889AsnfsTer3
XM_024454388.1:c.1570_1578delinsAA	XP_024310156.1:p.Glu524AsnfsTer3
XM_024454389.1:c.1159_1167delinsAA	XP_024310157.1:p.Glu387AsnfsTer3
XR_001742034.1:n.2682_2690delinsAA
XR_001742035.1:n.2682_2690delinsAA
NM_001369.3:c.2557_2565delinsAA MANE Select	NP_001360.1:p.Glu853AsnfsTer3