Canonical Allele Identifier: CA1528430475
Gene: DNAH5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13769266_13769267delinsGA , CM000667.2:g.13769266_13769267delinsGA GRCh38
NC_000005.9:g.13769375_13769376delinsGA , CM000667.1:g.13769375_13769376delinsGA GRCh37
NC_000005.8:g.13822375_13822376delinsGA NCBI36
NG_013081.1:g.180214_180215delinsTC
NG_013081.2:g.180214_180215delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000265104.5:c.9721-131_9721-130delinsTC MANE Select ENSP00000265104.4:n.9721-131_9721-130delinsTC
ENST00000681290.1:c.9676-131_9676-130delinsTC ENSP00000505288.1:n.9676-131_9676-130delinsTC
ENST00000265104.4:c.9721-131_9721-130delinsTC ENSP00000265104.4:n.9721-131_9721-130delinsTC
ENST00000504001.3:n.433-131_433-130delinsTC
NM_001369.2:c.9721-131_9721-130delinsTC NP_001360.1:n.9721-131_9721-130delinsTC
XM_005248262.2:c.9676-131_9676-130delinsTC XP_005248319.1:n.9676-131_9676-130delinsTC
XM_005248262.3:c.9829-131_9829-130delinsTC XP_005248319.2:n.9829-131_9829-130delinsTC
XM_017009177.1:c.9829-131_9829-130delinsTC XP_016864666.1:n.9829-131_9829-130delinsTC
XM_017009178.1:c.8734-131_8734-130delinsTC XP_016864667.1:n.8734-131_8734-130delinsTC
XM_017009179.2:c.8734-131_8734-130delinsTC XP_016864668.1:n.8734-131_8734-130delinsTC
XM_017009180.1:c.9829-131_9829-130delinsTC XP_016864669.1:n.9829-131_9829-130delinsTC
XM_017009181.1:c.9829-131_9829-130delinsTC XP_016864670.1:n.9829-131_9829-130delinsTC
XM_017009182.1:c.9829-131_9829-130delinsTC XP_016864671.1:n.9829-131_9829-130delinsTC
XM_017009185.1:c.4918-131_4918-130delinsTC XP_016864674.1:n.4918-131_4918-130delinsTC
XM_017009186.1:c.4471-131_4471-130delinsTC XP_016864675.1:n.4471-131_4471-130delinsTC
XM_017009188.1:c.3808-131_3808-130delinsTC XP_016864677.1:n.3808-131_3808-130delinsTC
XM_024454388.1:c.8734-131_8734-130delinsTC XP_024310156.1:n.8734-131_8734-130delinsTC
XM_024454389.1:c.8323-131_8323-130delinsTC XP_024310157.1:n.8323-131_8323-130delinsTC
NM_001369.3:c.9721-131_9721-130delinsTC MANE Select NP_001360.1:n.9721-131_9721-130delinsTC