Canonical Allele Identifier: CA658657431
Gene: DNAH5 HGNC NCBI

Linked Data

ClinVar Variation Id: 454749
ClinVar RCV Id: RCV000548482
dbSNP Id: rs1554101045

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13913762dup , CM000667.2:g.13913762dup GRCh38
NC_000005.9:g.13913871dup , CM000667.1:g.13913871dup GRCh37
NC_000005.8:g.13966871dup NCBI36
NG_013081.1:g.35719dup
NG_013081.2:g.35719dup

Transcript Alleles

HGVS Amino-acid change
ENST00000680213.2:n.1573dup
ENST00000682376.1:n.5746dup
ENST00000683011.1:n.1456dup
ENST00000683967.1:n.3882dup
ENST00000684013.1:n.2177dup
ENST00000684099.1:n.2173dup
ENST00000265104.5:c.1517dup MANE Select ENSP00000265104.4:p.Asp506GlufsTer5
ENST00000680213.1:c.1277dup ENSP00000506622.1:p.Asp426GlufsTer5
ENST00000681290.1:c.1472dup ENSP00000505288.1:p.Asp491GlufsTer5
ENST00000265104.4:c.1517dup ENSP00000265104.4:p.Asp506GlufsTer5
ENST00000508040.1:n.1925dup
NM_001369.2:c.1517dup NP_001360.1:p.Asp506GlufsTer5
XM_005248262.2:c.1472dup XP_005248319.1:p.Asp491GlufsTer5
XM_011513990.1:c.1517dup XP_011512292.1:p.Asp506GlufsTer5
XR_925598.1:n.1724dup
XM_005248262.3:c.1625dup XP_005248319.2:p.Asp542GlufsTer5
XM_017009177.1:c.1625dup XP_016864666.1:p.Asp542GlufsTer5
XM_017009178.1:c.530dup XP_016864667.1:p.Asp177GlufsTer5
XM_017009179.2:c.530dup XP_016864668.1:p.Asp177GlufsTer5
XM_017009180.1:c.1625dup XP_016864669.1:p.Asp542GlufsTer5
XM_017009181.1:c.1625dup XP_016864670.1:p.Asp542GlufsTer5
XM_017009182.1:c.1625dup XP_016864671.1:p.Asp542GlufsTer5
XM_017009183.1:c.1625dup XP_016864672.1:p.Asp542GlufsTer5
XM_017009184.1:c.1625dup XP_016864673.1:p.Asp542GlufsTer5
XM_017009187.1:c.1625dup XP_016864676.1:p.Asp542GlufsTer5
XM_024454388.1:c.530dup XP_024310156.1:p.Asp177GlufsTer5
XM_024454389.1:c.119dup XP_024310157.1:p.Asp40GlufsTer5
XR_001742034.1:n.1642dup
XR_001742035.1:n.1642dup
NM_001369.3:c.1517dup MANE Select NP_001360.1:p.Asp506GlufsTer5