Canonical Allele Identifier: CA1528395849

Gene: DNAH5

Linked Data

• dbSNP Id: rs1740758260
• gnomAD v4: 5-13692021-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13692024del , CM000667.2:g.13692024del	GRCh38
NC_000005.9:g.13692133del , CM000667.1:g.13692133del	GRCh37
NC_000005.8:g.13745133del	NCBI36
NG_013081.1:g.257459del
NG_013081.2:g.257459del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.1170del
ENST00000265104.5:c.13837del MANE Select	ENSP00000265104.4:p.Val4613CysfsTer?
ENST00000681290.1:c.13792del	ENSP00000505288.1:p.Val4598CysfsTer?
ENST00000265104.4:c.13837del	ENSP00000265104.4:p.Val4613CysfsTer?
NM_001369.2:c.13837del	NP_001360.1:p.Val4613CysfsTer?
XM_005248262.2:c.13792del	XP_005248319.1:p.Val4598CysfsTer?
XM_005248262.3:c.13945del	XP_005248319.2:p.Val4649CysfsTer?
XM_017009177.1:c.13525del	XP_016864666.1:p.Val4509CysfsTer?
XM_017009178.1:c.12850del	XP_016864667.1:p.Val4284CysfsTer?
XM_017009179.2:c.12850del	XP_016864668.1:p.Val4284CysfsTer?
XM_017009185.1:c.9034del	XP_016864674.1:p.Val3012CysfsTer?
XM_017009186.1:c.8587del	XP_016864675.1:p.Val2863CysfsTer?
XM_017009188.1:c.7924del	XP_016864677.1:p.Val2642CysfsTer?
XM_024454388.1:c.12850del	XP_024310156.1:p.Val4284CysfsTer?
XM_024454389.1:c.12439del	XP_024310157.1:p.Val4147CysfsTer?
NM_001369.3:c.13837del MANE Select	NP_001360.1:p.Val4613CysfsTer?