Canonical Allele Identifier: CA2673268302
Gene: DNAH5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13770835del , CM000667.2:g.13770835del GRCh38
NC_000005.9:g.13770944del , CM000667.1:g.13770944del GRCh37
NC_000005.8:g.13823944del NCBI36
NG_013081.1:g.178646del
NG_013081.2:g.178646del

Transcript Alleles

HGVS Amino-acid Change
ENST00000265104.5:c.9519del MANE Select ENSP00000265104.4:p.Thr3174ArgfsTer?
ENST00000681290.1:c.9474del ENSP00000505288.1:p.Thr3159ArgfsTer?
ENST00000265104.4:c.9519del ENSP00000265104.4:p.Thr3174ArgfsTer?
ENST00000504001.3:n.231del
NM_001369.2:c.9519del NP_001360.1:p.Thr3174ArgfsTer?
XM_005248262.2:c.9474del XP_005248319.1:p.Thr3159ArgfsTer?
XM_005248262.3:c.9627del XP_005248319.2:p.Thr3210ArgfsTer?
XM_017009177.1:c.9627del XP_016864666.1:p.Thr3210ArgfsTer?
XM_017009178.1:c.8532del XP_016864667.1:p.Thr2845ArgfsTer?
XM_017009179.2:c.8532del XP_016864668.1:p.Thr2845ArgfsTer?
XM_017009180.1:c.9627del XP_016864669.1:p.Thr3210ArgfsTer?
XM_017009181.1:c.9627del XP_016864670.1:p.Thr3210ArgfsTer?
XM_017009182.1:c.9627del XP_016864671.1:p.Thr3210ArgfsTer?
XM_017009183.1:c.9627del XP_016864672.1:p.Thr3210ArgfsTer?
XM_017009185.1:c.4716del XP_016864674.1:p.Thr1573ArgfsTer?
XM_017009186.1:c.4269del XP_016864675.1:p.Thr1424ArgfsTer?
XM_017009188.1:c.3606del XP_016864677.1:p.Thr1203ArgfsTer?
XM_024454388.1:c.8532del XP_024310156.1:p.Thr2845ArgfsTer?
XM_024454389.1:c.8121del XP_024310157.1:p.Thr2708ArgfsTer?
NM_001369.3:c.9519del MANE Select NP_001360.1:p.Thr3174ArgfsTer?