Canonical Allele Identifier: CA2695204392

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13901402_13901403del , CM000667.2:g.13901402_13901403del	GRCh38
NC_000005.9:g.13901511_13901512del , CM000667.1:g.13901511_13901512del	GRCh37
NC_000005.8:g.13954511_13954512del	NCBI36
NG_013081.1:g.48078_48079del
NG_013081.2:g.48078_48079del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.1901_1902del MANE Select	ENSP00000265104.4:p.Phe634SerfsTer2
ENST00000681290.1:c.1856_1857del	ENSP00000505288.1:p.Phe619SerfsTer2
ENST00000265104.4:c.1901_1902del	ENSP00000265104.4:p.Phe634SerfsTer2
NM_001369.2:c.1901_1902del	NP_001360.1:p.Phe634SerfsTer2
XM_005248262.2:c.1856_1857del	XP_005248319.1:p.Phe619SerfsTer2
XM_011513990.1:c.1901_1902del	XP_011512292.1:p.Phe634SerfsTer2
XR_925598.1:n.2108_2109del
XM_005248262.3:c.2009_2010del	XP_005248319.2:p.Phe670SerfsTer2
XM_017009177.1:c.2009_2010del	XP_016864666.1:p.Phe670SerfsTer2
XM_017009178.1:c.914_915del	XP_016864667.1:p.Phe305SerfsTer2
XM_017009179.2:c.914_915del	XP_016864668.1:p.Phe305SerfsTer2
XM_017009180.1:c.2009_2010del	XP_016864669.1:p.Phe670SerfsTer2
XM_017009181.1:c.2009_2010del	XP_016864670.1:p.Phe670SerfsTer2
XM_017009182.1:c.2009_2010del	XP_016864671.1:p.Phe670SerfsTer2
XM_017009183.1:c.2009_2010del	XP_016864672.1:p.Phe670SerfsTer2
XM_017009184.1:c.2009_2010del	XP_016864673.1:p.Phe670SerfsTer2
XM_017009187.1:c.2009_2010del	XP_016864676.1:p.Phe670SerfsTer2
XM_024454388.1:c.914_915del	XP_024310156.1:p.Phe305SerfsTer2
XM_024454389.1:c.503_504del	XP_024310157.1:p.Phe168SerfsTer2
XR_001742034.1:n.2026_2027del
XR_001742035.1:n.2026_2027del
NM_001369.3:c.1901_1902del MANE Select	NP_001360.1:p.Phe634SerfsTer2