Canonical Allele Identifier: CA1528498321
Gene: DNAH5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13919165_13919166delinsTG , CM000667.2:g.13919165_13919166delinsTG GRCh38
NC_000005.9:g.13919274_13919275delinsTG , CM000667.1:g.13919274_13919275delinsTG GRCh37
NC_000005.8:g.13972274_13972275delinsTG NCBI36
NG_013081.1:g.30315_30316delinsCA
NG_013081.2:g.30315_30316delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000680213.2:n.1031+10_1031+11delinsCA
ENST00000682376.1:n.1029_1030delinsCA
ENST00000682586.1:n.1078_1079delinsCA
ENST00000683011.1:n.914+10_914+11delinsCA
ENST00000683967.1:n.1074+10_1074+11delinsCA
ENST00000684013.1:n.1074+10_1074+11delinsCA
ENST00000684099.1:n.1070+10_1070+11delinsCA
ENST00000265104.5:c.975+10_975+11delinsCA MANE Select ENSP00000265104.4:n.975+10_975+11delinsCA
ENST00000680213.1:c.735+10_735+11delinsCA ENSP00000506622.1:n.735+10_735+11delinsCA
ENST00000681290.1:c.930+10_930+11delinsCA ENSP00000505288.1:n.930+10_930+11delinsCA
ENST00000265104.4:c.975+10_975+11delinsCA ENSP00000265104.4:n.975+10_975+11delinsCA
ENST00000508040.1:n.1383+10_1383+11delinsCA
NM_001369.2:c.975+10_975+11delinsCA NP_001360.1:n.975+10_975+11delinsCA
XM_005248262.2:c.930+10_930+11delinsCA XP_005248319.1:n.930+10_930+11delinsCA
XM_011513990.1:c.975+10_975+11delinsCA XP_011512292.1:n.975+10_975+11delinsCA
XR_925598.1:n.1182+10_1182+11delinsCA
XM_005248262.3:c.1083+10_1083+11delinsCA XP_005248319.2:n.1083+10_1083+11delinsCA
XM_017009177.1:c.1083+10_1083+11delinsCA XP_016864666.1:n.1083+10_1083+11delinsCA
XM_017009178.1:c.-13+10_-13+11delinsCA XP_016864667.1:n.-13+10_-13+11delinsCA
XM_017009180.1:c.1083+10_1083+11delinsCA XP_016864669.1:n.1083+10_1083+11delinsCA
XM_017009181.1:c.1083+10_1083+11delinsCA XP_016864670.1:n.1083+10_1083+11delinsCA
XM_017009182.1:c.1083+10_1083+11delinsCA XP_016864671.1:n.1083+10_1083+11delinsCA
XM_017009183.1:c.1083+10_1083+11delinsCA XP_016864672.1:n.1083+10_1083+11delinsCA
XM_017009184.1:c.1083+10_1083+11delinsCA XP_016864673.1:n.1083+10_1083+11delinsCA
XM_017009187.1:c.1083+10_1083+11delinsCA XP_016864676.1:n.1083+10_1083+11delinsCA
XM_024454388.1:c.-1922_-1921delinsCA XP_024310156.1:n.-1922_-1921delinsCA
XM_024454389.1:c.-985+10_-985+11delinsCA XP_024310157.1:n.-985+10_-985+11delinsCA
XR_001742034.1:n.1100+10_1100+11delinsCA
XR_001742035.1:n.1100+10_1100+11delinsCA
NM_001369.3:c.975+10_975+11delinsCA MANE Select NP_001360.1:n.975+10_975+11delinsCA