Canonical Allele Identifier: CA2580072048

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 2097803
• ClinVar RCV Id: RCV003006450 ; RCV003404013

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13830662_13830673del , CM000667.2:g.13830662_13830673del	GRCh38
NC_000005.9:g.13830771_13830782del , CM000667.1:g.13830771_13830782del	GRCh37
NC_000005.8:g.13883771_13883782del	NCBI36
NG_013081.1:g.118810_118821del
NG_013081.2:g.118810_118821del

Transcript Alleles

HGVS	Amino-acid change
ENST00000683090.1:n.918_929del
ENST00000265104.5:c.5987_5998del MANE Select	ENSP00000265104.4:p.Cys1996_Lys1999del
ENST00000681290.1:c.5942_5953del	ENSP00000505288.1:p.Cys1981_Lys1984del
ENST00000265104.4:c.5987_5998del	ENSP00000265104.4:p.Cys1996_Lys1999del
NM_001369.2:c.5987_5998del	NP_001360.1:p.Cys1996_Lys1999del
XM_005248262.2:c.5942_5953del	XP_005248319.1:p.Cys1981_Lys1984del
XM_011513990.1:c.5987_5998del	XP_011512292.1:p.Cys1996_Lys1999del
XR_925598.1:n.6194_6205del
XM_005248262.3:c.6095_6106del	XP_005248319.2:p.Cys2032_Lys2035del
XM_017009177.1:c.6095_6106del	XP_016864666.1:p.Cys2032_Lys2035del
XM_017009178.1:c.5000_5011del	XP_016864667.1:p.Cys1667_Lys1670del
XM_017009179.2:c.5000_5011del	XP_016864668.1:p.Cys1667_Lys1670del
XM_017009180.1:c.6095_6106del	XP_016864669.1:p.Cys2032_Lys2035del
XM_017009181.1:c.6095_6106del	XP_016864670.1:p.Cys2032_Lys2035del
XM_017009182.1:c.6095_6106del	XP_016864671.1:p.Cys2032_Lys2035del
XM_017009183.1:c.6095_6106del	XP_016864672.1:p.Cys2032_Lys2035del
XM_017009184.1:c.6095_6106del	XP_016864673.1:p.Cys2032_Lys2035del
XM_017009185.1:c.1184_1195del	XP_016864674.1:p.Cys395_Lys398del
XM_017009186.1:c.737_748del	XP_016864675.1:p.Cys246_Lys249del
XM_017009187.1:c.6095_6106del	XP_016864676.1:p.Cys2032_Lys2035del
XM_017009188.1:c.74_85del	XP_016864677.1:p.Cys25_Lys28del
XM_024454388.1:c.5000_5011del	XP_024310156.1:p.Cys1667_Lys1670del
XM_024454389.1:c.4589_4600del	XP_024310157.1:p.Cys1530_Lys1533del
XR_001742034.1:n.6112_6123del
XR_001742035.1:n.6112_6123del
NM_001369.3:c.5987_5998del MANE Select	NP_001360.1:p.Cys1996_Lys1999del