Canonical Allele Identifier: CA2573138458

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 1451692
• ClinVar RCV Id: RCV002007355
• dbSNP Id: rs2126785666

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13770798del , CM000667.2:g.13770798del	GRCh38
NC_000005.9:g.13770907del , CM000667.1:g.13770907del	GRCh37
NC_000005.8:g.13823907del	NCBI36
NG_013081.1:g.178684del
NG_013081.2:g.178684del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9557del MANE Select	ENSP00000265104.4:p.Lys3186SerfsTer18
ENST00000681290.1:c.9512del	ENSP00000505288.1:p.Lys3171SerfsTer18
ENST00000265104.4:c.9557del	ENSP00000265104.4:p.Lys3186SerfsTer18
ENST00000504001.3:n.269del
NM_001369.2:c.9557del	NP_001360.1:p.Lys3186SerfsTer18
XM_005248262.2:c.9512del	XP_005248319.1:p.Lys3171SerfsTer18
XM_005248262.3:c.9665del	XP_005248319.2:p.Lys3222SerfsTer18
XM_017009177.1:c.9665del	XP_016864666.1:p.Lys3222SerfsTer18
XM_017009178.1:c.8570del	XP_016864667.1:p.Lys2857SerfsTer18
XM_017009179.2:c.8570del	XP_016864668.1:p.Lys2857SerfsTer18
XM_017009180.1:c.9665del	XP_016864669.1:p.Lys3222SerfsTer18
XM_017009181.1:c.9665del	XP_016864670.1:p.Lys3222SerfsTer18
XM_017009182.1:c.9665del	XP_016864671.1:p.Lys3222SerfsTer18
XM_017009183.1:c.9665del	XP_016864672.1:p.Lys3222SerfsTer?
XM_017009185.1:c.4754del	XP_016864674.1:p.Lys1585SerfsTer18
XM_017009186.1:c.4307del	XP_016864675.1:p.Lys1436SerfsTer18
XM_017009188.1:c.3644del	XP_016864677.1:p.Lys1215SerfsTer18
XM_024454388.1:c.8570del	XP_024310156.1:p.Lys2857SerfsTer18
XM_024454389.1:c.8159del	XP_024310157.1:p.Lys2720SerfsTer18
NM_001369.3:c.9557del MANE Select	NP_001360.1:p.Lys3186SerfsTer18