Canonical Allele Identifier: CA1073394686

Gene: DNAH5

Linked Data

• gnomAD v3: 5-13841901-AG-A
• gnomAD v4: 5-13841901-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13841902del , CM000667.2:g.13841902del	GRCh38
NC_000005.9:g.13842011del , CM000667.1:g.13842011del	GRCh37
NC_000005.8:g.13895011del	NCBI36
NG_013081.1:g.107579del
NG_013081.2:g.107579del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.5274del MANE Select	ENSP00000265104.4:p.Tyr1759MetfsTer?
ENST00000681290.1:c.5229del	ENSP00000505288.1:p.Tyr1744MetfsTer?
ENST00000265104.4:c.5274del	ENSP00000265104.4:p.Tyr1759MetfsTer?
NM_001369.2:c.5274del	NP_001360.1:p.Tyr1759MetfsTer?
XM_005248262.2:c.5229del	XP_005248319.1:p.Tyr1744MetfsTer?
XM_011513990.1:c.5274del	XP_011512292.1:p.Tyr1759MetfsTer?
XR_925598.1:n.5481del
XM_005248262.3:c.5382del	XP_005248319.2:p.Tyr1795MetfsTer?
XM_017009177.1:c.5382del	XP_016864666.1:p.Tyr1795MetfsTer?
XM_017009178.1:c.4287del	XP_016864667.1:p.Tyr1430MetfsTer?
XM_017009179.2:c.4287del	XP_016864668.1:p.Tyr1430MetfsTer?
XM_017009180.1:c.5382del	XP_016864669.1:p.Tyr1795MetfsTer?
XM_017009181.1:c.5382del	XP_016864670.1:p.Tyr1795MetfsTer?
XM_017009182.1:c.5382del	XP_016864671.1:p.Tyr1795MetfsTer?
XM_017009183.1:c.5382del	XP_016864672.1:p.Tyr1795MetfsTer?
XM_017009184.1:c.5382del	XP_016864673.1:p.Tyr1795MetfsTer?
XM_017009185.1:c.471del	XP_016864674.1:p.Tyr158MetfsTer?
XM_017009186.1:c.24del	XP_016864675.1:p.Tyr9MetfsTer?
XM_017009187.1:c.5382del	XP_016864676.1:p.Tyr1795MetfsTer?
XM_024454388.1:c.4287del	XP_024310156.1:p.Tyr1430MetfsTer?
XM_024454389.1:c.3876del	XP_024310157.1:p.Tyr1293MetfsTer?
XR_001742034.1:n.5399del
XR_001742035.1:n.5399del
NM_001369.3:c.5274del MANE Select	NP_001360.1:p.Tyr1759MetfsTer?