Canonical Allele Identifier: CA2765350520
Gene: DNAH5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13871013_13871014insAAACACACCCAACA , CM000667.2:g.13871013_13871014insAAACACACCCAACA GRCh38
NC_000005.9:g.13871122_13871123insAAACACACCCAACA , CM000667.1:g.13871122_13871123insAAACACACCCAACA GRCh37
NC_000005.8:g.13924122_13924123insAAACACACCCAACA NCBI36
NG_013081.1:g.78467_78468insTGTTGGGTGTGTTT
NG_013081.2:g.78467_78468insTGTTGGGTGTGTTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000265104.5:c.3599-12_3599-11insTGTTGGGTGTGTTT MANE Select ENSP00000265104.4:n.3599-12_3599-11insTGTTGGGTGTGTTT
ENST00000681290.1:c.3554-12_3554-11insTGTTGGGTGTGTTT ENSP00000505288.1:n.3554-12_3554-11insTGTTGGGTGTGTTT
ENST00000265104.4:c.3599-12_3599-11insTGTTGGGTGTGTTT ENSP00000265104.4:n.3599-12_3599-11insTGTTGGGTGTGTTT
NM_001369.2:c.3599-12_3599-11insTGTTGGGTGTGTTT NP_001360.1:n.3599-12_3599-11insTGTTGGGTGTGTTT
XM_005248262.2:c.3554-12_3554-11insTGTTGGGTGTGTTT XP_005248319.1:n.3554-12_3554-11insTGTTGGGTGTGTTT
XM_011513990.1:c.3599-12_3599-11insTGTTGGGTGTGTTT XP_011512292.1:n.3599-12_3599-11insTGTTGGGTGTGTTT
XR_925598.1:n.3806-12_3806-11insTGTTGGGTGTGTTT
XM_005248262.3:c.3707-12_3707-11insTGTTGGGTGTGTTT XP_005248319.2:n.3707-12_3707-11insTGTTGGGTGTGTTT
XM_017009177.1:c.3707-12_3707-11insTGTTGGGTGTGTTT XP_016864666.1:n.3707-12_3707-11insTGTTGGGTGTGTTT
XM_017009178.1:c.2612-12_2612-11insTGTTGGGTGTGTTT XP_016864667.1:n.2612-12_2612-11insTGTTGGGTGTGTTT
XM_017009179.2:c.2612-12_2612-11insTGTTGGGTGTGTTT XP_016864668.1:n.2612-12_2612-11insTGTTGGGTGTGTTT
XM_017009180.1:c.3707-12_3707-11insTGTTGGGTGTGTTT XP_016864669.1:n.3707-12_3707-11insTGTTGGGTGTGTTT
XM_017009181.1:c.3707-12_3707-11insTGTTGGGTGTGTTT XP_016864670.1:n.3707-12_3707-11insTGTTGGGTGTGTTT
XM_017009182.1:c.3707-12_3707-11insTGTTGGGTGTGTTT XP_016864671.1:n.3707-12_3707-11insTGTTGGGTGTGTTT
XM_017009183.1:c.3707-12_3707-11insTGTTGGGTGTGTTT XP_016864672.1:n.3707-12_3707-11insTGTTGGGTGTGTTT
XM_017009184.1:c.3707-12_3707-11insTGTTGGGTGTGTTT XP_016864673.1:n.3707-12_3707-11insTGTTGGGTGTGTTT
XM_017009187.1:c.3707-12_3707-11insTGTTGGGTGTGTTT XP_016864676.1:n.3707-12_3707-11insTGTTGGGTGTGTTT
XM_024454388.1:c.2612-12_2612-11insTGTTGGGTGTGTTT XP_024310156.1:n.2612-12_2612-11insTGTTGGGTGTGTTT
XM_024454389.1:c.2201-12_2201-11insTGTTGGGTGTGTTT XP_024310157.1:n.2201-12_2201-11insTGTTGGGTGTGTTT
XR_001742034.1:n.3724-12_3724-11insTGTTGGGTGTGTTT
XR_001742035.1:n.3724-12_3724-11insTGTTGGGTGTGTTT
NM_001369.3:c.3599-12_3599-11insTGTTGGGTGTGTTT MANE Select NP_001360.1:n.3599-12_3599-11insTGTTGGGTGTGTTT