Canonical Allele Identifier: CA2673274330

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13841804-GAATT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13841807_13841810del , CM000667.2:g.13841807_13841810del	GRCh38
NC_000005.9:g.13841916_13841919del , CM000667.1:g.13841916_13841919del	GRCh37
NC_000005.8:g.13894916_13894919del	NCBI36
NG_013081.1:g.107673_107676del
NG_013081.2:g.107673_107676del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.5368_5371del MANE Select	ENSP00000265104.4:p.Asn1790LeufsTer13
ENST00000681290.1:c.5323_5326del	ENSP00000505288.1:p.Asn1775LeufsTer13
ENST00000265104.4:c.5368_5371del	ENSP00000265104.4:p.Asn1790LeufsTer13
NM_001369.2:c.5368_5371del	NP_001360.1:p.Asn1790LeufsTer13
XM_005248262.2:c.5323_5326del	XP_005248319.1:p.Asn1775LeufsTer13
XM_011513990.1:c.5368_5371del	XP_011512292.1:p.Asn1790LeufsTer13
XR_925598.1:n.5575_5578del
XM_005248262.3:c.5476_5479del	XP_005248319.2:p.Asn1826LeufsTer13
XM_017009177.1:c.5476_5479del	XP_016864666.1:p.Asn1826LeufsTer13
XM_017009178.1:c.4381_4384del	XP_016864667.1:p.Asn1461LeufsTer13
XM_017009179.2:c.4381_4384del	XP_016864668.1:p.Asn1461LeufsTer13
XM_017009180.1:c.5476_5479del	XP_016864669.1:p.Asn1826LeufsTer13
XM_017009181.1:c.5476_5479del	XP_016864670.1:p.Asn1826LeufsTer13
XM_017009182.1:c.5476_5479del	XP_016864671.1:p.Asn1826LeufsTer13
XM_017009183.1:c.5476_5479del	XP_016864672.1:p.Asn1826LeufsTer13
XM_017009184.1:c.5476_5479del	XP_016864673.1:p.Asn1826LeufsTer13
XM_017009185.1:c.565_568del	XP_016864674.1:p.Asn189LeufsTer13
XM_017009186.1:c.118_121del	XP_016864675.1:p.Asn40LeufsTer13
XM_017009187.1:c.5476_5479del	XP_016864676.1:p.Asn1826LeufsTer13
XM_024454388.1:c.4381_4384del	XP_024310156.1:p.Asn1461LeufsTer13
XM_024454389.1:c.3970_3973del	XP_024310157.1:p.Asn1324LeufsTer13
XR_001742034.1:n.5493_5496del
XR_001742035.1:n.5493_5496del
NM_001369.3:c.5368_5371del MANE Select	NP_001360.1:p.Asn1790LeufsTer13