Canonical Allele Identifier: CA1528430473
Gene: DNAH5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13769265_13769266delinsTG , CM000667.2:g.13769265_13769266delinsTG GRCh38
NC_000005.9:g.13769374_13769375delinsTG , CM000667.1:g.13769374_13769375delinsTG GRCh37
NC_000005.8:g.13822374_13822375delinsTG NCBI36
NG_013081.1:g.180215_180216delinsCA
NG_013081.2:g.180215_180216delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000265104.5:c.9721-130_9721-129delinsCA MANE Select ENSP00000265104.4:n.9721-130_9721-129delinsCA
ENST00000681290.1:c.9676-130_9676-129delinsCA ENSP00000505288.1:n.9676-130_9676-129delinsCA
ENST00000265104.4:c.9721-130_9721-129delinsCA ENSP00000265104.4:n.9721-130_9721-129delinsCA
ENST00000504001.3:n.433-130_433-129delinsCA
NM_001369.2:c.9721-130_9721-129delinsCA NP_001360.1:n.9721-130_9721-129delinsCA
XM_005248262.2:c.9676-130_9676-129delinsCA XP_005248319.1:n.9676-130_9676-129delinsCA
XM_005248262.3:c.9829-130_9829-129delinsCA XP_005248319.2:n.9829-130_9829-129delinsCA
XM_017009177.1:c.9829-130_9829-129delinsCA XP_016864666.1:n.9829-130_9829-129delinsCA
XM_017009178.1:c.8734-130_8734-129delinsCA XP_016864667.1:n.8734-130_8734-129delinsCA
XM_017009179.2:c.8734-130_8734-129delinsCA XP_016864668.1:n.8734-130_8734-129delinsCA
XM_017009180.1:c.9829-130_9829-129delinsCA XP_016864669.1:n.9829-130_9829-129delinsCA
XM_017009181.1:c.9829-130_9829-129delinsCA XP_016864670.1:n.9829-130_9829-129delinsCA
XM_017009182.1:c.9829-130_9829-129delinsCA XP_016864671.1:n.9829-130_9829-129delinsCA
XM_017009185.1:c.4918-130_4918-129delinsCA XP_016864674.1:n.4918-130_4918-129delinsCA
XM_017009186.1:c.4471-130_4471-129delinsCA XP_016864675.1:n.4471-130_4471-129delinsCA
XM_017009188.1:c.3808-130_3808-129delinsCA XP_016864677.1:n.3808-130_3808-129delinsCA
XM_024454388.1:c.8734-130_8734-129delinsCA XP_024310156.1:n.8734-130_8734-129delinsCA
XM_024454389.1:c.8323-130_8323-129delinsCA XP_024310157.1:n.8323-130_8323-129delinsCA
NM_001369.3:c.9721-130_9721-129delinsCA MANE Select NP_001360.1:n.9721-130_9721-129delinsCA