Canonical Allele Identifier: CA16609697
Gene: DNAH5 HGNC NCBI

Linked Data

ClinVar Variation Id: 225341
dbSNP Id: rs1060501460

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13776449del , CM000667.2:g.13776449del GRCh38
NC_000005.9:g.13776558del , CM000667.1:g.13776558del GRCh37
NC_000005.8:g.13829558del NCBI36
NG_013081.1:g.173034del
NG_013081.2:g.173034del

Transcript Alleles

HGVS Amino-acid change
ENST00000265104.5:c.9365del MANE Select ENSP00000265104.4:p.Leu3122Ter
ENST00000681290.1:c.9320del ENSP00000505288.1:p.Leu3107Ter
ENST00000265104.4:c.9365del ENSP00000265104.4:p.Leu3122Ter
NM_001369.2:c.9365del NP_001360.1:p.Leu3122Ter
XM_005248262.2:c.9320del XP_005248319.1:p.Leu3107Ter
XM_005248262.3:c.9473del XP_005248319.2:p.Leu3158Ter
XM_017009177.1:c.9473del XP_016864666.1:p.Leu3158Ter
XM_017009178.1:c.8378del XP_016864667.1:p.Leu2793Ter
XM_017009179.2:c.8378del XP_016864668.1:p.Leu2793Ter
XM_017009180.1:c.9473del XP_016864669.1:p.Leu3158Ter
XM_017009181.1:c.9473del XP_016864670.1:p.Leu3158Ter
XM_017009182.1:c.9473del XP_016864671.1:p.Leu3158Ter
XM_017009183.1:c.9473del XP_016864672.1:p.Leu3158Ter
XM_017009185.1:c.4562del XP_016864674.1:p.Leu1521Ter
XM_017009186.1:c.4115del XP_016864675.1:p.Leu1372Ter
XM_017009188.1:c.3452del XP_016864677.1:p.Leu1151Ter
XM_024454388.1:c.8378del XP_024310156.1:p.Leu2793Ter
XM_024454389.1:c.7967del XP_024310157.1:p.Leu2656Ter
NM_001369.3:c.9365del MANE Select NP_001360.1:p.Leu3122Ter