Canonical Allele Identifier: CA2580072140

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 2133282
• ClinVar RCV Id: RCV003040859
• gnomAD v4: 5-13752209-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13752210del , CM000667.2:g.13752210del	GRCh38
NC_000005.9:g.13752319del , CM000667.1:g.13752319del	GRCh37
NC_000005.8:g.13805319del	NCBI36
NG_013081.1:g.197271del
NG_013081.2:g.197271del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.10952del MANE Select	ENSP00000265104.4:p.Asp3651ValfsTer6
ENST00000681290.1:c.10907del	ENSP00000505288.1:p.Asp3636ValfsTer6
ENST00000265104.4:c.10952del	ENSP00000265104.4:p.Asp3651ValfsTer6
NM_001369.2:c.10952del	NP_001360.1:p.Asp3651ValfsTer6
XM_005248262.2:c.10907del	XP_005248319.1:p.Asp3636ValfsTer6
XM_005248262.3:c.11060del	XP_005248319.2:p.Asp3687ValfsTer6
XM_017009177.1:c.11060del	XP_016864666.1:p.Asp3687ValfsTer6
XM_017009178.1:c.9965del	XP_016864667.1:p.Asp3322ValfsTer6
XM_017009179.2:c.9965del	XP_016864668.1:p.Asp3322ValfsTer6
XM_017009180.1:c.11060del	XP_016864669.1:p.Asp3687ValfsTer6
XM_017009181.1:c.11060del	XP_016864670.1:p.Asp3687ValfsTer6
XM_017009182.1:c.11060del	XP_016864671.1:p.Asp3687ValfsTer6
XM_017009185.1:c.6149del	XP_016864674.1:p.Asp2050ValfsTer6
XM_017009186.1:c.5702del	XP_016864675.1:p.Asp1901ValfsTer6
XM_017009188.1:c.5039del	XP_016864677.1:p.Asp1680ValfsTer6
XM_024454388.1:c.9965del	XP_024310156.1:p.Asp3322ValfsTer6
XM_024454389.1:c.9554del	XP_024310157.1:p.Asp3185ValfsTer6
NM_001369.3:c.10952del MANE Select	NP_001360.1:p.Asp3651ValfsTer6