Canonical Allele Identifier: CA2673274334

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13841882-ATTGACAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13841883_13841889del , CM000667.2:g.13841883_13841889del	GRCh38
NC_000005.9:g.13841992_13841998del , CM000667.1:g.13841992_13841998del	GRCh37
NC_000005.8:g.13894992_13894998del	NCBI36
NG_013081.1:g.107592_107598del
NG_013081.2:g.107592_107598del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.5287_5293del MANE Select	ENSP00000265104.4:p.Leu1763PhefsTer?
ENST00000681290.1:c.5242_5248del	ENSP00000505288.1:p.Leu1748PhefsTer?
ENST00000265104.4:c.5287_5293del	ENSP00000265104.4:p.Leu1763PhefsTer?
NM_001369.2:c.5287_5293del	NP_001360.1:p.Leu1763PhefsTer?
XM_005248262.2:c.5242_5248del	XP_005248319.1:p.Leu1748PhefsTer?
XM_011513990.1:c.5287_5293del	XP_011512292.1:p.Leu1763PhefsTer?
XR_925598.1:n.5494_5500del
XM_005248262.3:c.5395_5401del	XP_005248319.2:p.Leu1799PhefsTer?
XM_017009177.1:c.5395_5401del	XP_016864666.1:p.Leu1799PhefsTer?
XM_017009178.1:c.4300_4306del	XP_016864667.1:p.Leu1434PhefsTer?
XM_017009179.2:c.4300_4306del	XP_016864668.1:p.Leu1434PhefsTer?
XM_017009180.1:c.5395_5401del	XP_016864669.1:p.Leu1799PhefsTer?
XM_017009181.1:c.5395_5401del	XP_016864670.1:p.Leu1799PhefsTer?
XM_017009182.1:c.5395_5401del	XP_016864671.1:p.Leu1799PhefsTer?
XM_017009183.1:c.5395_5401del	XP_016864672.1:p.Leu1799PhefsTer?
XM_017009184.1:c.5395_5401del	XP_016864673.1:p.Leu1799PhefsTer?
XM_017009185.1:c.484_490del	XP_016864674.1:p.Leu162PhefsTer?
XM_017009186.1:c.37_43del	XP_016864675.1:p.Leu13PhefsTer?
XM_017009187.1:c.5395_5401del	XP_016864676.1:p.Leu1799PhefsTer?
XM_024454388.1:c.4300_4306del	XP_024310156.1:p.Leu1434PhefsTer?
XM_024454389.1:c.3889_3895del	XP_024310157.1:p.Leu1297PhefsTer?
XR_001742034.1:n.5412_5418del
XR_001742035.1:n.5412_5418del
NM_001369.3:c.5287_5293del MANE Select	NP_001360.1:p.Leu1763PhefsTer?