Canonical Allele Identifier: CA557876803

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 454791
• ClinVar RCV Id: RCV000531317
• dbSNP Id: rs1474945018
• gnomAD v2: 5-13829719-AT-A
• gnomAD v4: 5-13829610-AT-A
• MyVariant Identifiers: chr5:g.13829720del (hg19) ; chr5:g.13829611del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13829611del , CM000667.2:g.13829611del	GRCh38
NC_000005.9:g.13829720del , CM000667.1:g.13829720del	GRCh37
NC_000005.8:g.13882720del	NCBI36
NG_013081.1:g.119870del
NG_013081.2:g.119870del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683090.1:n.1274del
ENST00000265104.5:c.6343del MANE Select	ENSP00000265104.4:p.Ile2115Ter
ENST00000681290.1:c.6298del	ENSP00000505288.1:p.Ile2100Ter
ENST00000265104.4:c.6343del	ENSP00000265104.4:p.Ile2115Ter
NM_001369.2:c.6343del	NP_001360.1:p.Ile2115Ter
XM_005248262.2:c.6298del	XP_005248319.1:p.Ile2100Ter
XM_011513990.1:c.6343del	XP_011512292.1:p.Ile2115Ter
XR_925598.1:n.6550del
XM_005248262.3:c.6451del	XP_005248319.2:p.Ile2151Ter
XM_017009177.1:c.6451del	XP_016864666.1:p.Ile2151Ter
XM_017009178.1:c.5356del	XP_016864667.1:p.Ile1786Ter
XM_017009179.2:c.5356del	XP_016864668.1:p.Ile1786Ter
XM_017009180.1:c.6451del	XP_016864669.1:p.Ile2151Ter
XM_017009181.1:c.6451del	XP_016864670.1:p.Ile2151Ter
XM_017009182.1:c.6451del	XP_016864671.1:p.Ile2151Ter
XM_017009183.1:c.6451del	XP_016864672.1:p.Ile2151Ter
XM_017009184.1:c.6451del	XP_016864673.1:p.Ile2151Ter
XM_017009185.1:c.1540del	XP_016864674.1:p.Ile514Ter
XM_017009186.1:c.1093del	XP_016864675.1:p.Ile365Ter
XM_017009187.1:c.6451del	XP_016864676.1:p.Ile2151Ter
XM_017009188.1:c.430del	XP_016864677.1:p.Ile144Ter
XM_024454388.1:c.5356del	XP_024310156.1:p.Ile1786Ter
XM_024454389.1:c.4945del	XP_024310157.1:p.Ile1649Ter
XR_001742034.1:n.6468del
XR_001742035.1:n.6468del
NM_001369.3:c.6343del MANE Select	NP_001360.1:p.Ile2115Ter