Canonical Allele Identifier: CA2673269814
Gene: DNAH5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13769263_13769264insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT , CM000667.2:g.13769263_13769264insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT GRCh38
NC_000005.9:g.13769372_13769373insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT , CM000667.1:g.13769372_13769373insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT GRCh37
NC_000005.8:g.13822372_13822373insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NCBI36
NG_013081.1:g.180233_180234insAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAA
NG_013081.2:g.180233_180234insAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000265104.5:c.9721-112_9721-111insAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAA MANE Select ENSP00000265104.4:n.9721-112_9721-111insAAAAAAAAAAAAAAAAAAGAA...
ENST00000681290.1:c.9676-112_9676-111insAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAA ENSP00000505288.1:n.9676-112_9676-111insAAAAAAAAAAAAAAAAAAGAA...
ENST00000265104.4:c.9721-112_9721-111insAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAA ENSP00000265104.4:n.9721-112_9721-111insAAAAAAAAAAAAAAAAAAGAA...
ENST00000504001.3:n.433-112_433-111insAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAA
NM_001369.2:c.9721-112_9721-111insAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAA NP_001360.1:n.9721-112_9721-111insAAAAAAAAAAAAAAAAAAGAAAAAAAA...
XM_005248262.2:c.9676-112_9676-111insAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAA XP_005248319.1:n.9676-112_9676-111insAAAAAAAAAAAAAAAAAAGAAAAA...
XM_005248262.3:c.9829-112_9829-111insAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAA XP_005248319.2:n.9829-112_9829-111insAAAAAAAAAAAAAAAAAAGAAAAA...
XM_017009177.1:c.9829-112_9829-111insAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAA XP_016864666.1:n.9829-112_9829-111insAAAAAAAAAAAAAAAAAAGAAAAA...
XM_017009178.1:c.8734-112_8734-111insAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAA XP_016864667.1:n.8734-112_8734-111insAAAAAAAAAAAAAAAAAAGAAAAA...
XM_017009179.2:c.8734-112_8734-111insAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAA XP_016864668.1:n.8734-112_8734-111insAAAAAAAAAAAAAAAAAAGAAAAA...
XM_017009180.1:c.9829-112_9829-111insAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAA XP_016864669.1:n.9829-112_9829-111insAAAAAAAAAAAAAAAAAAGAAAAA...
XM_017009181.1:c.9829-112_9829-111insAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAA XP_016864670.1:n.9829-112_9829-111insAAAAAAAAAAAAAAAAAAGAAAAA...
XM_017009182.1:c.9829-112_9829-111insAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAA XP_016864671.1:n.9829-112_9829-111insAAAAAAAAAAAAAAAAAAGAAAAA...
XM_017009185.1:c.4918-112_4918-111insAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAA XP_016864674.1:n.4918-112_4918-111insAAAAAAAAAAAAAAAAAAGAAAAA...
XM_017009186.1:c.4471-112_4471-111insAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAA XP_016864675.1:n.4471-112_4471-111insAAAAAAAAAAAAAAAAAAGAAAAA...
XM_017009188.1:c.3808-112_3808-111insAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAA XP_016864677.1:n.3808-112_3808-111insAAAAAAAAAAAAAAAAAAGAAAAA...
XM_024454388.1:c.8734-112_8734-111insAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAA XP_024310156.1:n.8734-112_8734-111insAAAAAAAAAAAAAAAAAAGAAAAA...
XM_024454389.1:c.8323-112_8323-111insAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAA XP_024310157.1:n.8323-112_8323-111insAAAAAAAAAAAAAAAAAAGAAAAA...
NM_001369.3:c.9721-112_9721-111insAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAA MANE Select NP_001360.1:n.9721-112_9721-111insAAAAAAAAAAAAAAAAAAGAAAAAAAA...