Canonical Allele Identifier: CA2573138452

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 1344589
• ClinVar RCV Id: RCV001849590
• dbSNP Id: rs2126910254

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13793599del , CM000667.2:g.13793599del	GRCh38
NC_000005.9:g.13793708del , CM000667.1:g.13793708del	GRCh37
NC_000005.8:g.13846708del	NCBI36
NG_013081.1:g.155883del
NG_013081.2:g.155883del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.8141del MANE Select	ENSP00000265104.4:p.Asn2714MetfsTer30
ENST00000681290.1:c.8096del	ENSP00000505288.1:p.Asn2699MetfsTer30
ENST00000265104.4:c.8141del	ENSP00000265104.4:p.Asn2714MetfsTer30
NM_001369.2:c.8141del	NP_001360.1:p.Asn2714MetfsTer30
XM_005248262.2:c.8096del	XP_005248319.1:p.Asn2699MetfsTer30
XM_011513990.1:c.8141del	XP_011512292.1:p.Asn2714MetfsTer30
XR_925598.1:n.8348del
XM_005248262.3:c.8249del	XP_005248319.2:p.Asn2750MetfsTer30
XM_017009177.1:c.8249del	XP_016864666.1:p.Asn2750MetfsTer30
XM_017009178.1:c.7154del	XP_016864667.1:p.Asn2385MetfsTer30
XM_017009179.2:c.7154del	XP_016864668.1:p.Asn2385MetfsTer30
XM_017009180.1:c.8249del	XP_016864669.1:p.Asn2750MetfsTer30
XM_017009181.1:c.8249del	XP_016864670.1:p.Asn2750MetfsTer30
XM_017009182.1:c.8249del	XP_016864671.1:p.Asn2750MetfsTer30
XM_017009183.1:c.8249del	XP_016864672.1:p.Asn2750MetfsTer30
XM_017009184.1:c.8249del	XP_016864673.1:p.Asn2750MetfsTer30
XM_017009185.1:c.3338del	XP_016864674.1:p.Asn1113MetfsTer30
XM_017009186.1:c.2891del	XP_016864675.1:p.Asn964MetfsTer30
XM_017009188.1:c.2228del	XP_016864677.1:p.Asn743MetfsTer30
XM_024454388.1:c.7154del	XP_024310156.1:p.Asn2385MetfsTer30
XM_024454389.1:c.6743del	XP_024310157.1:p.Asn2248MetfsTer30
XR_001742034.1:n.8266del
XR_001742035.1:n.8266del
NM_001369.3:c.8141del MANE Select	NP_001360.1:p.Asn2714MetfsTer30