Canonical Allele Identifier: CA1528403743
Gene: DNAH5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13708162_13708164delinsATC , CM000667.2:g.13708162_13708164delinsATC GRCh38
NC_000005.9:g.13708271_13708273delinsATC , CM000667.1:g.13708271_13708273delinsATC GRCh37
NC_000005.8:g.13761271_13761273delinsATC NCBI36
NG_013081.1:g.241317_241319delinsGAT
NG_013081.2:g.241317_241319delinsGAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000683611.1:n.630_632delinsGAT
ENST00000265104.5:c.13297_13299delinsGAT MANE Select ENSP00000265104.4:p.Asp4433=
ENST00000681290.1:c.13252_13254delinsGAT ENSP00000505288.1:p.Asp4418=
ENST00000265104.4:c.13297_13299delinsGAT ENSP00000265104.4:p.Asp4433=
NM_001369.2:c.13297_13299delinsGAT NP_001360.1:p.Asp4433=
XM_005248262.2:c.13252_13254delinsGAT XP_005248319.1:p.Asp4418=
XM_005248262.3:c.13405_13407delinsGAT XP_005248319.2:p.Asp4469=
XM_017009177.1:c.12985_12987delinsGAT XP_016864666.1:p.Asp4329=
XM_017009178.1:c.12310_12312delinsGAT XP_016864667.1:p.Asp4104=
XM_017009179.2:c.12310_12312delinsGAT XP_016864668.1:p.Asp4104=
XM_017009185.1:c.8494_8496delinsGAT XP_016864674.1:p.Asp2832=
XM_017009186.1:c.8047_8049delinsGAT XP_016864675.1:p.Asp2683=
XM_017009188.1:c.7384_7386delinsGAT XP_016864677.1:p.Asp2462=
XM_024454388.1:c.12310_12312delinsGAT XP_024310156.1:p.Asp4104=
XM_024454389.1:c.11899_11901delinsGAT XP_024310157.1:p.Asp3967=
NM_001369.3:c.13297_13299delinsGAT MANE Select NP_001360.1:p.Asp4433=