Canonical Allele Identifier: CA2580071996

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 1724863
• ClinVar RCV Id: RCV002307922

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13735919del , CM000667.2:g.13735919del	GRCh38
NC_000005.9:g.13736028del , CM000667.1:g.13736028del	GRCh37
NC_000005.8:g.13789028del	NCBI36
NG_013081.1:g.213562del
NG_013081.2:g.213562del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.11469del MANE Select	ENSP00000265104.4:p.Ser3824AlafsTer?
ENST00000681290.1:c.11424del	ENSP00000505288.1:p.Ser3809AlafsTer?
ENST00000265104.4:c.11469del	ENSP00000265104.4:p.Ser3824AlafsTer?
NM_001369.2:c.11469del	NP_001360.1:p.Ser3824AlafsTer?
XM_005248262.2:c.11424del	XP_005248319.1:p.Ser3809AlafsTer?
XM_005248262.3:c.11577del	XP_005248319.2:p.Ser3860AlafsTer?
XM_017009177.1:c.11577del	XP_016864666.1:p.Ser3860AlafsTer?
XM_017009178.1:c.10482del	XP_016864667.1:p.Ser3495AlafsTer?
XM_017009179.2:c.10482del	XP_016864668.1:p.Ser3495AlafsTer?
XM_017009180.1:c.11577del	XP_016864669.1:p.Ser3860AlafsTer?
XM_017009181.1:c.11577del	XP_016864670.1:p.Ser3860AlafsTer?
XM_017009182.1:c.11333del	XP_016864671.1:p.Ala3778GlufsTer9
XM_017009185.1:c.6666del	XP_016864674.1:p.Ser2223AlafsTer?
XM_017009186.1:c.6219del	XP_016864675.1:p.Ser2074AlafsTer?
XM_017009188.1:c.5556del	XP_016864677.1:p.Ser1853AlafsTer?
XM_024454388.1:c.10482del	XP_024310156.1:p.Ser3495AlafsTer?
XM_024454389.1:c.10071del	XP_024310157.1:p.Ser3358AlafsTer?
NM_001369.3:c.11469del MANE Select	NP_001360.1:p.Ser3824AlafsTer?