Canonical Allele Identifier: CA2673270114

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13770766-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13770767del , CM000667.2:g.13770767del	GRCh38
NC_000005.9:g.13770876del , CM000667.1:g.13770876del	GRCh37
NC_000005.8:g.13823876del	NCBI36
NG_013081.1:g.178714del
NG_013081.2:g.178714del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9587del MANE Select	ENSP00000265104.4:p.Val3196GlyfsTer8
ENST00000681290.1:c.9542del	ENSP00000505288.1:p.Val3181GlyfsTer8
ENST00000265104.4:c.9587del	ENSP00000265104.4:p.Val3196GlyfsTer8
ENST00000504001.3:n.299del
NM_001369.2:c.9587del	NP_001360.1:p.Val3196GlyfsTer8
XM_005248262.2:c.9542del	XP_005248319.1:p.Val3181GlyfsTer8
XM_005248262.3:c.9695del	XP_005248319.2:p.Val3232GlyfsTer8
XM_017009177.1:c.9695del	XP_016864666.1:p.Val3232GlyfsTer8
XM_017009178.1:c.8600del	XP_016864667.1:p.Val2867GlyfsTer8
XM_017009179.2:c.8600del	XP_016864668.1:p.Val2867GlyfsTer8
XM_017009180.1:c.9695del	XP_016864669.1:p.Val3232GlyfsTer8
XM_017009181.1:c.9695del	XP_016864670.1:p.Val3232GlyfsTer8
XM_017009182.1:c.9695del	XP_016864671.1:p.Val3232GlyfsTer8
XM_017009183.1:c.9695del	XP_016864672.1:p.Val3232GlyfsTer?
XM_017009185.1:c.4784del	XP_016864674.1:p.Val1595GlyfsTer8
XM_017009186.1:c.4337del	XP_016864675.1:p.Val1446GlyfsTer8
XM_017009188.1:c.3674del	XP_016864677.1:p.Val1225GlyfsTer8
XM_024454388.1:c.8600del	XP_024310156.1:p.Val2867GlyfsTer8
XM_024454389.1:c.8189del	XP_024310157.1:p.Val2730GlyfsTer8
NM_001369.3:c.9587del MANE Select	NP_001360.1:p.Val3196GlyfsTer8