Canonical Allele Identifier: CA2673265994
Gene: DNAH5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13691783_13691801del , CM000667.2:g.13691783_13691801del GRCh38
NC_000005.9:g.13691892_13691910del , CM000667.1:g.13691892_13691910del GRCh37
NC_000005.8:g.13744892_13744910del NCBI36
NG_013081.1:g.257685_257703del
NG_013081.2:g.257685_257703del

Transcript Alleles

HGVS Amino-acid Change
ENST00000683611.1:n.1396_1414del
ENST00000265104.5:c.*188_*206del MANE Select ENSP00000265104.4:n.*188_*206del
ENST00000681290.1:c.*188_*206del ENSP00000505288.1:n.*188_*206del
ENST00000265104.4:c.*188_*206del ENSP00000265104.4:n.*188_*206del
NM_001369.2:c.*188_*206del NP_001360.1:n.*188_*206del
XM_005248262.2:c.*188_*206del XP_005248319.1:n.*188_*206del
XM_005248262.3:c.*188_*206del XP_005248319.2:n.*188_*206del
XM_017009177.1:c.*188_*206del XP_016864666.1:n.*188_*206del
XM_017009178.1:c.*188_*206del XP_016864667.1:n.*188_*206del
XM_017009179.2:c.*188_*206del XP_016864668.1:n.*188_*206del
XM_017009185.1:c.*188_*206del XP_016864674.1:n.*188_*206del
XM_017009186.1:c.*188_*206del XP_016864675.1:n.*188_*206del
XM_017009188.1:c.*188_*206del XP_016864677.1:n.*188_*206del
XM_024454388.1:c.*188_*206del XP_024310156.1:n.*188_*206del
XM_024454389.1:c.*188_*206del XP_024310157.1:n.*188_*206del
NM_001369.3:c.*188_*206del MANE Select NP_001360.1:n.*188_*206del