Canonical Allele Identifier: CA2580071994

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 1725354
• ClinVar RCV Id: RCV002309038

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13708205_13708206del , CM000667.2:g.13708205_13708206del	GRCh38
NC_000005.9:g.13708314_13708315del , CM000667.1:g.13708314_13708315del	GRCh37
NC_000005.8:g.13761314_13761315del	NCBI36
NG_013081.1:g.241275_241276del
NG_013081.2:g.241275_241276del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.588_589del
ENST00000265104.5:c.13255_13256del MANE Select	ENSP00000265104.4:p.Asp4419TrpfsTer18
ENST00000681290.1:c.13210_13211del	ENSP00000505288.1:p.Asp4404TrpfsTer18
ENST00000265104.4:c.13255_13256del	ENSP00000265104.4:p.Asp4419TrpfsTer18
NM_001369.2:c.13255_13256del	NP_001360.1:p.Asp4419TrpfsTer18
XM_005248262.2:c.13210_13211del	XP_005248319.1:p.Asp4404TrpfsTer18
XM_005248262.3:c.13363_13364del	XP_005248319.2:p.Asp4455TrpfsTer18
XM_017009177.1:c.12943_12944del	XP_016864666.1:p.Asp4315TrpfsTer18
XM_017009178.1:c.12268_12269del	XP_016864667.1:p.Asp4090TrpfsTer18
XM_017009179.2:c.12268_12269del	XP_016864668.1:p.Asp4090TrpfsTer18
XM_017009185.1:c.8452_8453del	XP_016864674.1:p.Asp2818TrpfsTer18
XM_017009186.1:c.8005_8006del	XP_016864675.1:p.Asp2669TrpfsTer18
XM_017009188.1:c.7342_7343del	XP_016864677.1:p.Asp2448TrpfsTer18
XM_024454388.1:c.12268_12269del	XP_024310156.1:p.Asp4090TrpfsTer18
XM_024454389.1:c.11857_11858del	XP_024310157.1:p.Asp3953TrpfsTer18
NM_001369.3:c.13255_13256del MANE Select	NP_001360.1:p.Asp4419TrpfsTer18