Canonical Allele Identifier: CA658796500

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 525430
• ClinVar RCV Id: RCV000629486
• dbSNP Id: rs1554072027
• MyVariant Identifiers: chr5:g.13839466dup (hg19) ; chr5:g.13839357dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13839357dup , CM000667.2:g.13839357dup	GRCh38
NC_000005.9:g.13839466dup , CM000667.1:g.13839466dup	GRCh37
NC_000005.8:g.13892466dup	NCBI36
NG_013081.1:g.110124dup
NG_013081.2:g.110124dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000265104.5:c.5881dup MANE Select	ENSP00000265104.4:p.Arg1961LysfsTer?
ENST00000681290.1:c.5836dup	ENSP00000505288.1:p.Arg1946LysfsTer?
ENST00000265104.4:c.5881dup	ENSP00000265104.4:p.Arg1961LysfsTer?
NM_001369.2:c.5881dup	NP_001360.1:p.Arg1961LysfsTer?
XM_005248262.2:c.5836dup	XP_005248319.1:p.Arg1946LysfsTer?
XM_011513990.1:c.5881dup	XP_011512292.1:p.Arg1961LysfsTer?
XR_925598.1:n.6088dup
XM_005248262.3:c.5989dup	XP_005248319.2:p.Arg1997LysfsTer?
XM_017009177.1:c.5989dup	XP_016864666.1:p.Arg1997LysfsTer?
XM_017009178.1:c.4894dup	XP_016864667.1:p.Arg1632LysfsTer?
XM_017009179.2:c.4894dup	XP_016864668.1:p.Arg1632LysfsTer?
XM_017009180.1:c.5989dup	XP_016864669.1:p.Arg1997LysfsTer?
XM_017009181.1:c.5989dup	XP_016864670.1:p.Arg1997LysfsTer?
XM_017009182.1:c.5989dup	XP_016864671.1:p.Arg1997LysfsTer?
XM_017009183.1:c.5989dup	XP_016864672.1:p.Arg1997LysfsTer?
XM_017009184.1:c.5989dup	XP_016864673.1:p.Arg1997LysfsTer?
XM_017009185.1:c.1078dup	XP_016864674.1:p.Arg360LysfsTer?
XM_017009186.1:c.631dup	XP_016864675.1:p.Arg211LysfsTer?
XM_017009187.1:c.5989dup	XP_016864676.1:p.Arg1997LysfsTer?
XM_024454388.1:c.4894dup	XP_024310156.1:p.Arg1632LysfsTer?
XM_024454389.1:c.4483dup	XP_024310157.1:p.Arg1495LysfsTer?
XR_001742034.1:n.6006dup
XR_001742035.1:n.6006dup
NM_001369.3:c.5881dup MANE Select	NP_001360.1:p.Arg1961LysfsTer?