Canonical Allele Identifier: CA1073401907

Gene: DNAH5

Linked Data

• dbSNP Id: rs1750557822
• gnomAD v3: 5-13753528-GC-G
• gnomAD v4: 5-13753528-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13753529del , CM000667.2:g.13753529del	GRCh38
NC_000005.9:g.13753638del , CM000667.1:g.13753638del	GRCh37
NC_000005.8:g.13806638del	NCBI36
NG_013081.1:g.195952del
NG_013081.2:g.195952del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.10576del MANE Select	ENSP00000265104.4:p.Ala3526LeufsTer18
ENST00000681290.1:c.10531del	ENSP00000505288.1:p.Ala3511LeufsTer18
ENST00000265104.4:c.10576del	ENSP00000265104.4:p.Ala3526LeufsTer18
NM_001369.2:c.10576del	NP_001360.1:p.Ala3526LeufsTer18
XM_005248262.2:c.10531del	XP_005248319.1:p.Ala3511LeufsTer18
XM_005248262.3:c.10684del	XP_005248319.2:p.Ala3562LeufsTer18
XM_017009177.1:c.10684del	XP_016864666.1:p.Ala3562LeufsTer18
XM_017009178.1:c.9589del	XP_016864667.1:p.Ala3197LeufsTer18
XM_017009179.2:c.9589del	XP_016864668.1:p.Ala3197LeufsTer18
XM_017009180.1:c.10684del	XP_016864669.1:p.Ala3562LeufsTer18
XM_017009181.1:c.10684del	XP_016864670.1:p.Ala3562LeufsTer18
XM_017009182.1:c.10684del	XP_016864671.1:p.Ala3562LeufsTer18
XM_017009185.1:c.5773del	XP_016864674.1:p.Ala1925LeufsTer18
XM_017009186.1:c.5326del	XP_016864675.1:p.Ala1776LeufsTer18
XM_017009188.1:c.4663del	XP_016864677.1:p.Ala1555LeufsTer18
XM_024454388.1:c.9589del	XP_024310156.1:p.Ala3197LeufsTer18
XM_024454389.1:c.9178del	XP_024310157.1:p.Ala3060LeufsTer18
NM_001369.3:c.10576del MANE Select	NP_001360.1:p.Ala3526LeufsTer18