Canonical Allele Identifier: CA2681981379
Gene: DNAH11 HGNC NCBI

Linked Data

gnomAD v4: 7-21619239-TG-T
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21619242del , CM000669.2:g.21619242del GRCh38
NC_000007.13:g.21658860del , CM000669.1:g.21658860del GRCh37
NC_000007.12:g.21625385del NCBI36
NG_012886.2:g.81028del

Transcript Alleles

HGVS Amino-acid change
ENST00000409508.8:c.4377+20del MANE Select ENSP00000475939.1:n.4377+20del
ENST00000328843.10:c.4392+20del ENSP00000330671.7:n.4392+20del
ENST00000409508.7:c.4377+20del ENSP00000475939.1:n.4377+20del
ENST00000465593.1:n.403+20del
ENST00000620169.4:c.4392+20del ENSP00000481693.1:n.4392+20del
NM_001277115.1:c.4377+20del NP_001264044.1:n.4377+20del
NM_001277115.2:c.4377+20del MANE Select NP_001264044.1:n.4377+20del
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