Canonical Allele Identifier: CA2739274587

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 2836653
• ClinVar RCV Id: RCV003651306

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13839373dup , CM000667.2:g.13839373dup	GRCh38
NC_000005.9:g.13839482dup , CM000667.1:g.13839482dup	GRCh37
NC_000005.8:g.13892482dup	NCBI36
NG_013081.1:g.110109dup
NG_013081.2:g.110109dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.5866dup MANE Select	ENSP00000265104.4:p.Thr1956AsnfsTer?
ENST00000681290.1:c.5821dup	ENSP00000505288.1:p.Thr1941AsnfsTer?
ENST00000265104.4:c.5866dup	ENSP00000265104.4:p.Thr1956AsnfsTer?
NM_001369.2:c.5866dup	NP_001360.1:p.Thr1956AsnfsTer?
XM_005248262.2:c.5821dup	XP_005248319.1:p.Thr1941AsnfsTer?
XM_011513990.1:c.5866dup	XP_011512292.1:p.Thr1956AsnfsTer?
XR_925598.1:n.6073dup
XM_005248262.3:c.5974dup	XP_005248319.2:p.Thr1992AsnfsTer?
XM_017009177.1:c.5974dup	XP_016864666.1:p.Thr1992AsnfsTer?
XM_017009178.1:c.4879dup	XP_016864667.1:p.Thr1627AsnfsTer?
XM_017009179.2:c.4879dup	XP_016864668.1:p.Thr1627AsnfsTer?
XM_017009180.1:c.5974dup	XP_016864669.1:p.Thr1992AsnfsTer?
XM_017009181.1:c.5974dup	XP_016864670.1:p.Thr1992AsnfsTer?
XM_017009182.1:c.5974dup	XP_016864671.1:p.Thr1992AsnfsTer?
XM_017009183.1:c.5974dup	XP_016864672.1:p.Thr1992AsnfsTer?
XM_017009184.1:c.5974dup	XP_016864673.1:p.Thr1992AsnfsTer?
XM_017009185.1:c.1063dup	XP_016864674.1:p.Thr355AsnfsTer?
XM_017009186.1:c.616dup	XP_016864675.1:p.Thr206AsnfsTer?
XM_017009187.1:c.5974dup	XP_016864676.1:p.Thr1992AsnfsTer?
XM_024454388.1:c.4879dup	XP_024310156.1:p.Thr1627AsnfsTer?
XM_024454389.1:c.4468dup	XP_024310157.1:p.Thr1490AsnfsTer?
XR_001742034.1:n.5991dup
XR_001742035.1:n.5991dup
NM_001369.3:c.5866dup MANE Select	NP_001360.1:p.Thr1956AsnfsTer?