Canonical Allele Identifier: CA1528498276
Gene: DNAH5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13919076_13919079delinsTATA , CM000667.2:g.13919076_13919079delinsTATA GRCh38
NC_000005.9:g.13919185_13919188delinsTATA , CM000667.1:g.13919185_13919188delinsTATA GRCh37
NC_000005.8:g.13972185_13972188delinsTATA NCBI36
NG_013081.1:g.30402_30405delinsTATA
NG_013081.2:g.30402_30405delinsTATA

Transcript Alleles

HGVS Amino-acid Change
ENST00000680213.2:n.1031+97_1031+100delinsTATA
ENST00000682376.1:n.1116_1119delinsTATA
ENST00000682586.1:n.1165_1168delinsTATA
ENST00000683011.1:n.914+97_914+100delinsTATA
ENST00000683967.1:n.1074+97_1074+100delinsTATA
ENST00000684013.1:n.1074+97_1074+100delinsTATA
ENST00000684099.1:n.1070+97_1070+100delinsTATA
ENST00000265104.5:c.975+97_975+100delinsTATA MANE Select ENSP00000265104.4:n.975+97_975+100delinsTATA
ENST00000680213.1:c.735+97_735+100delinsTATA ENSP00000506622.1:n.735+97_735+100delinsTATA
ENST00000681290.1:c.930+97_930+100delinsTATA ENSP00000505288.1:n.930+97_930+100delinsTATA
ENST00000265104.4:c.975+97_975+100delinsTATA ENSP00000265104.4:n.975+97_975+100delinsTATA
ENST00000508040.1:n.1383+97_1383+100delinsTATA
NM_001369.2:c.975+97_975+100delinsTATA NP_001360.1:n.975+97_975+100delinsTATA
XM_005248262.2:c.930+97_930+100delinsTATA XP_005248319.1:n.930+97_930+100delinsTATA
XM_011513990.1:c.975+97_975+100delinsTATA XP_011512292.1:n.975+97_975+100delinsTATA
XR_925598.1:n.1182+97_1182+100delinsTATA
XM_005248262.3:c.1083+97_1083+100delinsTATA XP_005248319.2:n.1083+97_1083+100delinsTATA
XM_017009177.1:c.1083+97_1083+100delinsTATA XP_016864666.1:n.1083+97_1083+100delinsTATA
XM_017009178.1:c.-13+97_-13+100delinsTATA XP_016864667.1:n.-13+97_-13+100delinsTATA
XM_017009179.2:c.-119_-116delinsTATA XP_016864668.1:n.-119_-116delinsTATA
XM_017009180.1:c.1083+97_1083+100delinsTATA XP_016864669.1:n.1083+97_1083+100delinsTATA
XM_017009181.1:c.1083+97_1083+100delinsTATA XP_016864670.1:n.1083+97_1083+100delinsTATA
XM_017009182.1:c.1083+97_1083+100delinsTATA XP_016864671.1:n.1083+97_1083+100delinsTATA
XM_017009183.1:c.1083+97_1083+100delinsTATA XP_016864672.1:n.1083+97_1083+100delinsTATA
XM_017009184.1:c.1083+97_1083+100delinsTATA XP_016864673.1:n.1083+97_1083+100delinsTATA
XM_017009187.1:c.1083+97_1083+100delinsTATA XP_016864676.1:n.1083+97_1083+100delinsTATA
XM_024454388.1:c.-1835_-1832delinsTATA XP_024310156.1:n.-1835_-1832delinsTATA
XM_024454389.1:c.-985+97_-985+100delinsTATA XP_024310157.1:n.-985+97_-985+100delinsTATA
XR_001742034.1:n.1100+97_1100+100delinsTATA
XR_001742035.1:n.1100+97_1100+100delinsTATA
NM_001369.3:c.975+97_975+100delinsTATA MANE Select NP_001360.1:n.975+97_975+100delinsTATA