Canonical Allele Identifier: CA2580072161

Gene: DNAH5

Linked Data

• ClinVar Variation Id: 1725806
• ClinVar RCV Id: RCV002309490

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13885980_13885983del , CM000667.2:g.13885980_13885983del	GRCh38
NC_000005.9:g.13886089_13886092del , CM000667.1:g.13886089_13886092del	GRCh37
NC_000005.8:g.13939089_13939092del	NCBI36
NG_013081.1:g.63498_63501del
NG_013081.2:g.63498_63501del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.2724_2727del MANE Select	ENSP00000265104.4:p.Asn908LysfsTer17
ENST00000681290.1:c.2679_2682del	ENSP00000505288.1:p.Asn893LysfsTer17
ENST00000265104.4:c.2724_2727del	ENSP00000265104.4:p.Asn908LysfsTer17
NM_001369.2:c.2724_2727del	NP_001360.1:p.Asn908LysfsTer17
XM_005248262.2:c.2679_2682del	XP_005248319.1:p.Asn893LysfsTer17
XM_011513990.1:c.2724_2727del	XP_011512292.1:p.Asn908LysfsTer17
XR_925598.1:n.2931_2934del
XM_005248262.3:c.2832_2835del	XP_005248319.2:p.Asn944LysfsTer17
XM_017009177.1:c.2832_2835del	XP_016864666.1:p.Asn944LysfsTer17
XM_017009178.1:c.1737_1740del	XP_016864667.1:p.Asn579LysfsTer17
XM_017009179.2:c.1737_1740del	XP_016864668.1:p.Asn579LysfsTer17
XM_017009180.1:c.2832_2835del	XP_016864669.1:p.Asn944LysfsTer17
XM_017009181.1:c.2832_2835del	XP_016864670.1:p.Asn944LysfsTer17
XM_017009182.1:c.2832_2835del	XP_016864671.1:p.Asn944LysfsTer17
XM_017009183.1:c.2832_2835del	XP_016864672.1:p.Asn944LysfsTer17
XM_017009184.1:c.2832_2835del	XP_016864673.1:p.Asn944LysfsTer17
XM_017009187.1:c.2832_2835del	XP_016864676.1:p.Asn944LysfsTer17
XM_024454388.1:c.1737_1740del	XP_024310156.1:p.Asn579LysfsTer17
XM_024454389.1:c.1326_1329del	XP_024310157.1:p.Asn442LysfsTer17
XR_001742034.1:n.2849_2852del
XR_001742035.1:n.2849_2852del
NM_001369.3:c.2724_2727del MANE Select	NP_001360.1:p.Asn908LysfsTer17