Canonical Allele Identifier: CA2695204158

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13793605del , CM000667.2:g.13793605del	GRCh38
NC_000005.9:g.13793714del , CM000667.1:g.13793714del	GRCh37
NC_000005.8:g.13846714del	NCBI36
NG_013081.1:g.155877del
NG_013081.2:g.155877del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.8135del MANE Select	ENSP00000265104.4:p.Gly2712AspfsTer?
ENST00000681290.1:c.8090del	ENSP00000505288.1:p.Gly2697AspfsTer?
ENST00000265104.4:c.8135del	ENSP00000265104.4:p.Gly2712AspfsTer?
NM_001369.2:c.8135del	NP_001360.1:p.Gly2712AspfsTer?
XM_005248262.2:c.8090del	XP_005248319.1:p.Gly2697AspfsTer?
XM_011513990.1:c.8135del	XP_011512292.1:p.Gly2712AspfsTer?
XR_925598.1:n.8342del
XM_005248262.3:c.8243del	XP_005248319.2:p.Gly2748AspfsTer?
XM_017009177.1:c.8243del	XP_016864666.1:p.Gly2748AspfsTer?
XM_017009178.1:c.7148del	XP_016864667.1:p.Gly2383AspfsTer?
XM_017009179.2:c.7148del	XP_016864668.1:p.Gly2383AspfsTer?
XM_017009180.1:c.8243del	XP_016864669.1:p.Gly2748AspfsTer?
XM_017009181.1:c.8243del	XP_016864670.1:p.Gly2748AspfsTer?
XM_017009182.1:c.8243del	XP_016864671.1:p.Gly2748AspfsTer?
XM_017009183.1:c.8243del	XP_016864672.1:p.Gly2748AspfsTer?
XM_017009184.1:c.8243del	XP_016864673.1:p.Gly2748AspfsTer?
XM_017009185.1:c.3332del	XP_016864674.1:p.Gly1111AspfsTer?
XM_017009186.1:c.2885del	XP_016864675.1:p.Gly962AspfsTer?
XM_017009188.1:c.2222del	XP_016864677.1:p.Gly741AspfsTer?
XM_024454388.1:c.7148del	XP_024310156.1:p.Gly2383AspfsTer?
XM_024454389.1:c.6737del	XP_024310157.1:p.Gly2246AspfsTer?
XR_001742034.1:n.8260del
XR_001742035.1:n.8260del
NM_001369.3:c.8135del MANE Select	NP_001360.1:p.Gly2712AspfsTer?