Canonical Allele Identifier: CA16611803
Gene: DNAH5 HGNC NCBI

Linked Data

ClinVar Variation Id: 407236
ClinVar RCV Id: RCV000473515
dbSNP Id: rs1060501461

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13829662del , CM000667.2:g.13829662del GRCh38
NC_000005.9:g.13829771del , CM000667.1:g.13829771del GRCh37
NC_000005.8:g.13882771del NCBI36
NG_013081.1:g.119820del
NG_013081.2:g.119820del

Transcript Alleles

HGVS Amino-acid change
ENST00000683090.1:n.1224del
ENST00000265104.5:c.6293del MANE Select ENSP00000265104.4:p.Lys2098ArgfsTer9
ENST00000681290.1:c.6248del ENSP00000505288.1:p.Lys2083ArgfsTer9
ENST00000265104.4:c.6293del ENSP00000265104.4:p.Lys2098ArgfsTer9
NM_001369.2:c.6293del NP_001360.1:p.Lys2098ArgfsTer9
XM_005248262.2:c.6248del XP_005248319.1:p.Lys2083ArgfsTer9
XM_011513990.1:c.6293del XP_011512292.1:p.Lys2098ArgfsTer9
XR_925598.1:n.6500del
XM_005248262.3:c.6401del XP_005248319.2:p.Lys2134ArgfsTer9
XM_017009177.1:c.6401del XP_016864666.1:p.Lys2134ArgfsTer9
XM_017009178.1:c.5306del XP_016864667.1:p.Lys1769ArgfsTer9
XM_017009179.2:c.5306del XP_016864668.1:p.Lys1769ArgfsTer9
XM_017009180.1:c.6401del XP_016864669.1:p.Lys2134ArgfsTer9
XM_017009181.1:c.6401del XP_016864670.1:p.Lys2134ArgfsTer9
XM_017009182.1:c.6401del XP_016864671.1:p.Lys2134ArgfsTer9
XM_017009183.1:c.6401del XP_016864672.1:p.Lys2134ArgfsTer9
XM_017009184.1:c.6401del XP_016864673.1:p.Lys2134ArgfsTer9
XM_017009185.1:c.1490del XP_016864674.1:p.Lys497ArgfsTer9
XM_017009186.1:c.1043del XP_016864675.1:p.Lys348ArgfsTer9
XM_017009187.1:c.6401del XP_016864676.1:p.Lys2134ArgfsTer9
XM_017009188.1:c.380del XP_016864677.1:p.Lys127ArgfsTer9
XM_024454388.1:c.5306del XP_024310156.1:p.Lys1769ArgfsTer9
XM_024454389.1:c.4895del XP_024310157.1:p.Lys1632ArgfsTer9
XR_001742034.1:n.6418del
XR_001742035.1:n.6418del
NM_001369.3:c.6293del MANE Select NP_001360.1:p.Lys2098ArgfsTer9