Canonical Allele Identifier: CA2673274337

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13841891-ATTCGATC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13841892_13841898del , CM000667.2:g.13841892_13841898del	GRCh38
NC_000005.9:g.13842001_13842007del , CM000667.1:g.13842001_13842007del	GRCh37
NC_000005.8:g.13895001_13895007del	NCBI36
NG_013081.1:g.107583_107589del
NG_013081.2:g.107583_107589del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.5278_5284del MANE Select	ENSP00000265104.4:p.Asp1760PhefsTer?
ENST00000681290.1:c.5233_5239del	ENSP00000505288.1:p.Asp1745PhefsTer?
ENST00000265104.4:c.5278_5284del	ENSP00000265104.4:p.Asp1760PhefsTer?
NM_001369.2:c.5278_5284del	NP_001360.1:p.Asp1760PhefsTer?
XM_005248262.2:c.5233_5239del	XP_005248319.1:p.Asp1745PhefsTer?
XM_011513990.1:c.5278_5284del	XP_011512292.1:p.Asp1760PhefsTer?
XR_925598.1:n.5485_5491del
XM_005248262.3:c.5386_5392del	XP_005248319.2:p.Asp1796PhefsTer?
XM_017009177.1:c.5386_5392del	XP_016864666.1:p.Asp1796PhefsTer?
XM_017009178.1:c.4291_4297del	XP_016864667.1:p.Asp1431PhefsTer?
XM_017009179.2:c.4291_4297del	XP_016864668.1:p.Asp1431PhefsTer?
XM_017009180.1:c.5386_5392del	XP_016864669.1:p.Asp1796PhefsTer?
XM_017009181.1:c.5386_5392del	XP_016864670.1:p.Asp1796PhefsTer?
XM_017009182.1:c.5386_5392del	XP_016864671.1:p.Asp1796PhefsTer?
XM_017009183.1:c.5386_5392del	XP_016864672.1:p.Asp1796PhefsTer?
XM_017009184.1:c.5386_5392del	XP_016864673.1:p.Asp1796PhefsTer?
XM_017009185.1:c.475_481del	XP_016864674.1:p.Asp159PhefsTer?
XM_017009186.1:c.28_34del	XP_016864675.1:p.Asp10PhefsTer?
XM_017009187.1:c.5386_5392del	XP_016864676.1:p.Asp1796PhefsTer?
XM_024454388.1:c.4291_4297del	XP_024310156.1:p.Asp1431PhefsTer?
XM_024454389.1:c.3880_3886del	XP_024310157.1:p.Asp1294PhefsTer?
XR_001742034.1:n.5403_5409del
XR_001742035.1:n.5403_5409del
NM_001369.3:c.5278_5284del MANE Select	NP_001360.1:p.Asp1760PhefsTer?