Canonical Allele Identifier: CA2673266100

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13692009-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13692013del , CM000667.2:g.13692013del	GRCh38
NC_000005.9:g.13692122del , CM000667.1:g.13692122del	GRCh37
NC_000005.8:g.13745122del	NCBI36
NG_013081.1:g.257471del
NG_013081.2:g.257471del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.1182del
ENST00000265104.5:c.13849del MANE Select	ENSP00000265104.4:p.Val4617LeufsTer28
ENST00000681290.1:c.13804del	ENSP00000505288.1:p.Val4602LeufsTer28
ENST00000265104.4:c.13849del	ENSP00000265104.4:p.Val4617LeufsTer28
NM_001369.2:c.13849del	NP_001360.1:p.Val4617LeufsTer28
XM_005248262.2:c.13804del	XP_005248319.1:p.Val4602LeufsTer28
XM_005248262.3:c.13957del	XP_005248319.2:p.Val4653LeufsTer28
XM_017009177.1:c.13537del	XP_016864666.1:p.Val4513LeufsTer28
XM_017009178.1:c.12862del	XP_016864667.1:p.Val4288LeufsTer28
XM_017009179.2:c.12862del	XP_016864668.1:p.Val4288LeufsTer28
XM_017009185.1:c.9046del	XP_016864674.1:p.Val3016LeufsTer28
XM_017009186.1:c.8599del	XP_016864675.1:p.Val2867LeufsTer28
XM_017009188.1:c.7936del	XP_016864677.1:p.Val2646LeufsTer28
XM_024454388.1:c.12862del	XP_024310156.1:p.Val4288LeufsTer28
XM_024454389.1:c.12451del	XP_024310157.1:p.Val4151LeufsTer28
NM_001369.3:c.13849del MANE Select	NP_001360.1:p.Val4617LeufsTer28