Canonical Allele Identifier: CA891843375

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 565985
• ClinVar RCV Id: RCV000685683
• dbSNP Id: rs1561241156
• MyVariant Identifiers: chr5:g.13781025del (hg19) ; chr5:g.13780916del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13780916del , CM000667.2:g.13780916del	GRCh38
NC_000005.9:g.13781025del , CM000667.1:g.13781025del	GRCh37
NC_000005.8:g.13834025del	NCBI36
NG_013081.1:g.168565del
NG_013081.2:g.168565del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.8864del MANE Select	ENSP00000265104.4:p.Val2955AlafsTer11
ENST00000681290.1:c.8819del	ENSP00000505288.1:p.Val2940AlafsTer11
ENST00000265104.4:c.8864del	ENSP00000265104.4:p.Val2955AlafsTer11
NM_001369.2:c.8864del	NP_001360.1:p.Val2955AlafsTer11
XM_005248262.2:c.8819del	XP_005248319.1:p.Val2940AlafsTer11
XM_011513990.1:c.8864del	XP_011512292.1:p.Val2955AlafsTer11
XR_925598.1:n.9028-3561del
XM_005248262.3:c.8972del	XP_005248319.2:p.Val2991AlafsTer11
XM_017009177.1:c.8972del	XP_016864666.1:p.Val2991AlafsTer11
XM_017009178.1:c.7877del	XP_016864667.1:p.Val2626AlafsTer11
XM_017009179.2:c.7877del	XP_016864668.1:p.Val2626AlafsTer11
XM_017009180.1:c.8972del	XP_016864669.1:p.Val2991AlafsTer11
XM_017009181.1:c.8972del	XP_016864670.1:p.Val2991AlafsTer11
XM_017009182.1:c.8972del	XP_016864671.1:p.Val2991AlafsTer11
XM_017009183.1:c.8972del	XP_016864672.1:p.Val2991AlafsTer11
XM_017009184.1:c.8972del	XP_016864673.1:p.Val2991AlafsTer11
XM_017009185.1:c.4061del	XP_016864674.1:p.Val1354AlafsTer11
XM_017009186.1:c.3614del	XP_016864675.1:p.Val1205AlafsTer11
XM_017009188.1:c.2951del	XP_016864677.1:p.Val984AlafsTer11
XM_024454388.1:c.7877del	XP_024310156.1:p.Val2626AlafsTer11
XM_024454389.1:c.7466del	XP_024310157.1:p.Val2489AlafsTer11
XR_001742034.1:n.8946-3561del
XR_001742035.1:n.8946-3561del
NM_001369.3:c.8864del MANE Select	NP_001360.1:p.Val2955AlafsTer11