Canonical Allele Identifier: CA2673271248

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 2793776
• ClinVar RCV Id: RCV003647358
• gnomAD v4: 5-13793606-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13793608del , CM000667.2:g.13793608del	GRCh38
NC_000005.9:g.13793717del , CM000667.1:g.13793717del	GRCh37
NC_000005.8:g.13846717del	NCBI36
NG_013081.1:g.155874del
NG_013081.2:g.155874del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.8132del MANE Select	ENSP00000265104.4:p.Gly2711ValfsTer?
ENST00000681290.1:c.8087del	ENSP00000505288.1:p.Gly2696ValfsTer?
ENST00000265104.4:c.8132del	ENSP00000265104.4:p.Gly2711ValfsTer?
NM_001369.2:c.8132del	NP_001360.1:p.Gly2711ValfsTer?
XM_005248262.2:c.8087del	XP_005248319.1:p.Gly2696ValfsTer?
XM_011513990.1:c.8132del	XP_011512292.1:p.Gly2711ValfsTer?
XR_925598.1:n.8339del
XM_005248262.3:c.8240del	XP_005248319.2:p.Gly2747ValfsTer?
XM_017009177.1:c.8240del	XP_016864666.1:p.Gly2747ValfsTer?
XM_017009178.1:c.7145del	XP_016864667.1:p.Gly2382ValfsTer?
XM_017009179.2:c.7145del	XP_016864668.1:p.Gly2382ValfsTer?
XM_017009180.1:c.8240del	XP_016864669.1:p.Gly2747ValfsTer?
XM_017009181.1:c.8240del	XP_016864670.1:p.Gly2747ValfsTer?
XM_017009182.1:c.8240del	XP_016864671.1:p.Gly2747ValfsTer?
XM_017009183.1:c.8240del	XP_016864672.1:p.Gly2747ValfsTer?
XM_017009184.1:c.8240del	XP_016864673.1:p.Gly2747ValfsTer?
XM_017009185.1:c.3329del	XP_016864674.1:p.Gly1110ValfsTer?
XM_017009186.1:c.2882del	XP_016864675.1:p.Gly961ValfsTer?
XM_017009188.1:c.2219del	XP_016864677.1:p.Gly740ValfsTer?
XM_024454388.1:c.7145del	XP_024310156.1:p.Gly2382ValfsTer?
XM_024454389.1:c.6734del	XP_024310157.1:p.Gly2245ValfsTer?
XR_001742034.1:n.8257del
XR_001742035.1:n.8257del
NM_001369.3:c.8132del MANE Select	NP_001360.1:p.Gly2711ValfsTer?