Canonical Allele Identifier: CA1073400302

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 1993031
• ClinVar RCV Id: RCV002801088
• dbSNP Id: rs1772380356
• gnomAD v3: 5-13886032-AC-A
• gnomAD v4: 5-13886032-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13886033del , CM000667.2:g.13886033del	GRCh38
NC_000005.9:g.13886142del , CM000667.1:g.13886142del	GRCh37
NC_000005.8:g.13939142del	NCBI36
NG_013081.1:g.63448del
NG_013081.2:g.63448del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.2674del MANE Select	ENSP00000265104.4:p.Val892PhefsTer?
ENST00000681290.1:c.2629del	ENSP00000505288.1:p.Val877PhefsTer?
ENST00000265104.4:c.2674del	ENSP00000265104.4:p.Val892PhefsTer?
NM_001369.2:c.2674del	NP_001360.1:p.Val892PhefsTer?
XM_005248262.2:c.2629del	XP_005248319.1:p.Val877PhefsTer?
XM_011513990.1:c.2674del	XP_011512292.1:p.Val892PhefsTer?
XR_925598.1:n.2881del
XM_005248262.3:c.2782del	XP_005248319.2:p.Val928PhefsTer?
XM_017009177.1:c.2782del	XP_016864666.1:p.Val928PhefsTer?
XM_017009178.1:c.1687del	XP_016864667.1:p.Val563PhefsTer?
XM_017009179.2:c.1687del	XP_016864668.1:p.Val563PhefsTer?
XM_017009180.1:c.2782del	XP_016864669.1:p.Val928PhefsTer?
XM_017009181.1:c.2782del	XP_016864670.1:p.Val928PhefsTer?
XM_017009182.1:c.2782del	XP_016864671.1:p.Val928PhefsTer?
XM_017009183.1:c.2782del	XP_016864672.1:p.Val928PhefsTer?
XM_017009184.1:c.2782del	XP_016864673.1:p.Val928PhefsTer?
XM_017009187.1:c.2782del	XP_016864676.1:p.Val928PhefsTer?
XM_024454388.1:c.1687del	XP_024310156.1:p.Val563PhefsTer?
XM_024454389.1:c.1276del	XP_024310157.1:p.Val426PhefsTer?
XR_001742034.1:n.2799del
XR_001742035.1:n.2799del
NM_001369.3:c.2674del MANE Select	NP_001360.1:p.Val892PhefsTer?