Canonical Allele Identifier: CA2739274613

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 2890437
• ClinVar RCV Id: RCV003650119

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13776460dup , CM000667.2:g.13776460dup	GRCh38
NC_000005.9:g.13776569dup , CM000667.1:g.13776569dup	GRCh37
NC_000005.8:g.13829569dup	NCBI36
NG_013081.1:g.173023dup
NG_013081.2:g.173023dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000265104.5:c.9354dup MANE Select	ENSP00000265104.4:p.Lys3119GlnfsTer9
ENST00000681290.1:c.9309dup	ENSP00000505288.1:p.Lys3104GlnfsTer9
ENST00000265104.4:c.9354dup	ENSP00000265104.4:p.Lys3119GlnfsTer9
NM_001369.2:c.9354dup	NP_001360.1:p.Lys3119GlnfsTer9
XM_005248262.2:c.9309dup	XP_005248319.1:p.Lys3104GlnfsTer9
XM_005248262.3:c.9462dup	XP_005248319.2:p.Lys3155GlnfsTer9
XM_017009177.1:c.9462dup	XP_016864666.1:p.Lys3155GlnfsTer9
XM_017009178.1:c.8367dup	XP_016864667.1:p.Lys2790GlnfsTer9
XM_017009179.2:c.8367dup	XP_016864668.1:p.Lys2790GlnfsTer9
XM_017009180.1:c.9462dup	XP_016864669.1:p.Lys3155GlnfsTer9
XM_017009181.1:c.9462dup	XP_016864670.1:p.Lys3155GlnfsTer9
XM_017009182.1:c.9462dup	XP_016864671.1:p.Lys3155GlnfsTer9
XM_017009183.1:c.9462dup	XP_016864672.1:p.Lys3155GlnfsTer9
XM_017009185.1:c.4551dup	XP_016864674.1:p.Lys1518GlnfsTer9
XM_017009186.1:c.4104dup	XP_016864675.1:p.Lys1369GlnfsTer9
XM_017009188.1:c.3441dup	XP_016864677.1:p.Lys1148GlnfsTer9
XM_024454388.1:c.8367dup	XP_024310156.1:p.Lys2790GlnfsTer9
XM_024454389.1:c.7956dup	XP_024310157.1:p.Lys2653GlnfsTer9
NM_001369.3:c.9354dup MANE Select	NP_001360.1:p.Lys3119GlnfsTer9