Canonical Allele Identifier: CA658683382

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 488403
• ClinVar RCV Id: RCV000578159 ; RCV003652054
• dbSNP Id: rs1554082275
• MyVariant Identifiers: chr5:g.13864572del (hg19) ; chr5:g.13864463del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13864466del , CM000667.2:g.13864466del	GRCh38
NC_000005.9:g.13864575del , CM000667.1:g.13864575del	GRCh37
NC_000005.8:g.13917575del	NCBI36
NG_013081.1:g.85018del
NG_013081.2:g.85018del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.4530del MANE Select	ENSP00000265104.4:p.Asn1511MetfsTer6
ENST00000681290.1:c.4485del	ENSP00000505288.1:p.Asn1496MetfsTer6
ENST00000265104.4:c.4530del	ENSP00000265104.4:p.Asn1511MetfsTer6
NM_001369.2:c.4530del	NP_001360.1:p.Asn1511MetfsTer6
XM_005248262.2:c.4485del	XP_005248319.1:p.Asn1496MetfsTer6
XM_011513990.1:c.4530del	XP_011512292.1:p.Asn1511MetfsTer6
XR_925598.1:n.4737del
XM_005248262.3:c.4638del	XP_005248319.2:p.Asn1547MetfsTer6
XM_017009177.1:c.4638del	XP_016864666.1:p.Asn1547MetfsTer6
XM_017009178.1:c.3543del	XP_016864667.1:p.Asn1182MetfsTer6
XM_017009179.2:c.3543del	XP_016864668.1:p.Asn1182MetfsTer6
XM_017009180.1:c.4638del	XP_016864669.1:p.Asn1547MetfsTer6
XM_017009181.1:c.4638del	XP_016864670.1:p.Asn1547MetfsTer6
XM_017009182.1:c.4638del	XP_016864671.1:p.Asn1547MetfsTer6
XM_017009183.1:c.4638del	XP_016864672.1:p.Asn1547MetfsTer6
XM_017009184.1:c.4638del	XP_016864673.1:p.Asn1547MetfsTer6
XM_017009187.1:c.4638del	XP_016864676.1:p.Asn1547MetfsTer6
XM_024454388.1:c.3543del	XP_024310156.1:p.Asn1182MetfsTer6
XM_024454389.1:c.3132del	XP_024310157.1:p.Asn1045MetfsTer6
XR_001742034.1:n.4655del
XR_001742035.1:n.4655del
NM_001369.3:c.4530del MANE Select	NP_001360.1:p.Asn1511MetfsTer6