Canonical Allele Identifier: CA2673273941

Gene: DNAH5

Linked Data

• gnomAD v4: 5-13839276-CTAAGAGACTTTAAGCAAAAATCCCCTGAGCAACTCGAGAGAATAAAAATGGTGGGGGTTGGGGAGAAGGGTTCCATCACCTGTCTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13839281_13839366del , CM000667.2:g.13839281_13839366del	GRCh38
NC_000005.9:g.13839390_13839475del , CM000667.1:g.13839390_13839475del	GRCh37
NC_000005.8:g.13892390_13892475del	NCBI36
NG_013081.1:g.110119_110204del
NG_013081.2:g.110119_110204del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.5876_5882+79del
ENST00000681290.1:c.5831_5837+79del
ENST00000265104.4:c.5876_5882+79del
NM_001369.2:c.5876_5882+79del
XM_005248262.2:c.5831_5837+79del
XM_011513990.1:c.5876_5882+79del
XR_925598.1:n.6083_6089+79del
XM_005248262.3:c.5984_5990+79del
XM_017009177.1:c.5984_5990+79del
XM_017009178.1:c.4889_4895+79del
XM_017009179.2:c.4889_4895+79del
XM_017009180.1:c.5984_5990+79del
XM_017009181.1:c.5984_5990+79del
XM_017009182.1:c.5984_5990+79del
XM_017009183.1:c.5984_5990+79del
XM_017009184.1:c.5984_5990+79del
XM_017009185.1:c.1073_1079+79del
XM_017009186.1:c.626_632+79del
XM_017009187.1:c.5984_5990+79del
XM_024454388.1:c.4889_4895+79del
XM_024454389.1:c.4478_4484+79del
XR_001742034.1:n.6001_6007+79del
XR_001742035.1:n.6001_6007+79del
NM_001369.3:c.5876_5882+79del