Canonical Allele Identifier: CA2578269595

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13708265_13708266del , CM000667.2:g.13708265_13708266del	GRCh38
NC_000005.9:g.13708374_13708375del , CM000667.1:g.13708374_13708375del	GRCh37
NC_000005.8:g.13761374_13761375del	NCBI36
NG_013081.1:g.241216_241217del
NG_013081.2:g.241216_241217del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.529_530del
ENST00000265104.5:c.13196_13197del MANE Select	ENSP00000265104.4:p.Arg4399AsnfsTer14
ENST00000681290.1:c.13151_13152del	ENSP00000505288.1:p.Arg4384AsnfsTer14
ENST00000265104.4:c.13196_13197del	ENSP00000265104.4:p.Arg4399AsnfsTer14
NM_001369.2:c.13196_13197del	NP_001360.1:p.Arg4399AsnfsTer14
XM_005248262.2:c.13151_13152del	XP_005248319.1:p.Arg4384AsnfsTer14
XM_005248262.3:c.13304_13305del	XP_005248319.2:p.Arg4435AsnfsTer14
XM_017009177.1:c.12884_12885del	XP_016864666.1:p.Arg4295AsnfsTer14
XM_017009178.1:c.12209_12210del	XP_016864667.1:p.Arg4070AsnfsTer14
XM_017009179.2:c.12209_12210del	XP_016864668.1:p.Arg4070AsnfsTer14
XM_017009185.1:c.8393_8394del	XP_016864674.1:p.Arg2798AsnfsTer14
XM_017009186.1:c.7946_7947del	XP_016864675.1:p.Arg2649AsnfsTer14
XM_017009188.1:c.7283_7284del	XP_016864677.1:p.Arg2428AsnfsTer14
XM_024454388.1:c.12209_12210del	XP_024310156.1:p.Arg4070AsnfsTer14
XM_024454389.1:c.11798_11799del	XP_024310157.1:p.Arg3933AsnfsTer14
NM_001369.3:c.13196_13197del MANE Select	NP_001360.1:p.Arg4399AsnfsTer14