Canonical Allele Identifier: CA3202099
Gene: DNAH5 HGNC NCBI

Linked Data

ClinVar Variation Id: 407260
ClinVar RCV Id: RCV000467540
dbSNP Id: rs769691189

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13752252del , CM000667.2:g.13752252del GRCh38
NC_000005.9:g.13752361del , CM000667.1:g.13752361del GRCh37
NC_000005.8:g.13805361del NCBI36
NG_013081.1:g.197229del
NG_013081.2:g.197229del

Transcript Alleles

HGVS Amino-acid change
ENST00000265104.5:c.10910del MANE Select ENSP00000265104.4:p.Leu3637ArgfsTer20
ENST00000681290.1:c.10865del ENSP00000505288.1:p.Leu3622ArgfsTer20
ENST00000265104.4:c.10910del ENSP00000265104.4:p.Leu3637ArgfsTer20
NM_001369.2:c.10910del NP_001360.1:p.Leu3637ArgfsTer20
XM_005248262.2:c.10865del XP_005248319.1:p.Leu3622ArgfsTer20
XM_005248262.3:c.11018del XP_005248319.2:p.Leu3673ArgfsTer20
XM_017009177.1:c.11018del XP_016864666.1:p.Leu3673ArgfsTer20
XM_017009178.1:c.9923del XP_016864667.1:p.Leu3308ArgfsTer20
XM_017009179.2:c.9923del XP_016864668.1:p.Leu3308ArgfsTer20
XM_017009180.1:c.11018del XP_016864669.1:p.Leu3673ArgfsTer20
XM_017009181.1:c.11018del XP_016864670.1:p.Leu3673ArgfsTer20
XM_017009182.1:c.11018del XP_016864671.1:p.Leu3673ArgfsTer20
XM_017009185.1:c.6107del XP_016864674.1:p.Leu2036ArgfsTer20
XM_017009186.1:c.5660del XP_016864675.1:p.Leu1887ArgfsTer20
XM_017009188.1:c.4997del XP_016864677.1:p.Leu1666ArgfsTer20
XM_024454388.1:c.9923del XP_024310156.1:p.Leu3308ArgfsTer20
XM_024454389.1:c.9512del XP_024310157.1:p.Leu3171ArgfsTer20
NM_001369.3:c.10910del MANE Select NP_001360.1:p.Leu3637ArgfsTer20