Canonical Allele Identifier: CA2673276849

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13876816-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13876817del , CM000667.2:g.13876817del	GRCh38
NC_000005.9:g.13876926del , CM000667.1:g.13876926del	GRCh37
NC_000005.8:g.13929926del	NCBI36
NG_013081.1:g.72664del
NG_013081.2:g.72664del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.3263del MANE Select	ENSP00000265104.4:p.Asp1088ValfsTer5
ENST00000681290.1:c.3218del	ENSP00000505288.1:p.Asp1073ValfsTer5
ENST00000265104.4:c.3263del	ENSP00000265104.4:p.Asp1088ValfsTer5
NM_001369.2:c.3263del	NP_001360.1:p.Asp1088ValfsTer5
XM_005248262.2:c.3218del	XP_005248319.1:p.Asp1073ValfsTer5
XM_011513990.1:c.3263del	XP_011512292.1:p.Asp1088ValfsTer5
XR_925598.1:n.3470del
XM_005248262.3:c.3371del	XP_005248319.2:p.Asp1124ValfsTer5
XM_017009177.1:c.3371del	XP_016864666.1:p.Asp1124ValfsTer5
XM_017009178.1:c.2276del	XP_016864667.1:p.Asp759ValfsTer5
XM_017009179.2:c.2276del	XP_016864668.1:p.Asp759ValfsTer5
XM_017009180.1:c.3371del	XP_016864669.1:p.Asp1124ValfsTer5
XM_017009181.1:c.3371del	XP_016864670.1:p.Asp1124ValfsTer5
XM_017009182.1:c.3371del	XP_016864671.1:p.Asp1124ValfsTer5
XM_017009183.1:c.3371del	XP_016864672.1:p.Asp1124ValfsTer5
XM_017009184.1:c.3371del	XP_016864673.1:p.Asp1124ValfsTer5
XM_017009187.1:c.3371del	XP_016864676.1:p.Asp1124ValfsTer5
XM_024454388.1:c.2276del	XP_024310156.1:p.Asp759ValfsTer5
XM_024454389.1:c.1865del	XP_024310157.1:p.Asp622ValfsTer5
XR_001742034.1:n.3388del
XR_001742035.1:n.3388del
NM_001369.3:c.3263del MANE Select	NP_001360.1:p.Asp1088ValfsTer5