Canonical Allele Identifier: CA2673268517
Gene: DNAH5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13771231_13771232insCCACC , CM000667.2:g.13771231_13771232insCCACC GRCh38
NC_000005.9:g.13771340_13771341insCCACC , CM000667.1:g.13771340_13771341insCCACC GRCh37
NC_000005.8:g.13824340_13824341insCCACC NCBI36
NG_013081.1:g.178249_178250insGGTGG
NG_013081.2:g.178249_178250insGGTGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000265104.5:c.9374-252_9374-251insGGTGG MANE Select ENSP00000265104.4:n.9374-252_9374-251insGGTGG
ENST00000681290.1:c.9329-252_9329-251insGGTGG ENSP00000505288.1:n.9329-252_9329-251insGGTGG
ENST00000265104.4:c.9374-252_9374-251insGGTGG ENSP00000265104.4:n.9374-252_9374-251insGGTGG
ENST00000504001.3:n.51_52insGGTGG
NM_001369.2:c.9374-252_9374-251insGGTGG NP_001360.1:n.9374-252_9374-251insGGTGG
XM_005248262.2:c.9329-252_9329-251insGGTGG XP_005248319.1:n.9329-252_9329-251insGGTGG
XM_005248262.3:c.9482-252_9482-251insGGTGG XP_005248319.2:n.9482-252_9482-251insGGTGG
XM_017009177.1:c.9482-252_9482-251insGGTGG XP_016864666.1:n.9482-252_9482-251insGGTGG
XM_017009178.1:c.8387-252_8387-251insGGTGG XP_016864667.1:n.8387-252_8387-251insGGTGG
XM_017009179.2:c.8387-252_8387-251insGGTGG XP_016864668.1:n.8387-252_8387-251insGGTGG
XM_017009180.1:c.9482-252_9482-251insGGTGG XP_016864669.1:n.9482-252_9482-251insGGTGG
XM_017009181.1:c.9482-252_9482-251insGGTGG XP_016864670.1:n.9482-252_9482-251insGGTGG
XM_017009182.1:c.9482-252_9482-251insGGTGG XP_016864671.1:n.9482-252_9482-251insGGTGG
XM_017009183.1:c.9482-252_9482-251insGGTGG XP_016864672.1:n.9482-252_9482-251insGGTGG
XM_017009185.1:c.4571-252_4571-251insGGTGG XP_016864674.1:n.4571-252_4571-251insGGTGG
XM_017009186.1:c.4124-252_4124-251insGGTGG XP_016864675.1:n.4124-252_4124-251insGGTGG
XM_017009188.1:c.3461-252_3461-251insGGTGG XP_016864677.1:n.3461-252_3461-251insGGTGG
XM_024454388.1:c.8387-252_8387-251insGGTGG XP_024310156.1:n.8387-252_8387-251insGGTGG
XM_024454389.1:c.7976-252_7976-251insGGTGG XP_024310157.1:n.7976-252_7976-251insGGTGG
NM_001369.3:c.9374-252_9374-251insGGTGG MANE Select NP_001360.1:n.9374-252_9374-251insGGTGG