Canonical Allele Identifier: CA2578865526
Gene: DNAH11 HGNC NCBI

Linked Data

ClinVar Variation Id: 2783075
ClinVar RCV Id: RCV003648146
gnomAD v4: 7-21600134-AATG-A
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21600135_21600137del , CM000669.2:g.21600135_21600137del GRCh38
NC_000007.13:g.21639753_21639755del , CM000669.1:g.21639753_21639755del GRCh37
NC_000007.12:g.21606278_21606280del NCBI36
NG_012886.2:g.61921_61923del

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.3000+16_3000+18del MANE Select ENSP00000475939.1:n.3000+16_3000+18del
ENST00000328843.10:c.3000+16_3000+18del ENSP00000330671.7:n.3000+16_3000+18del
ENST00000409508.7:c.3000+16_3000+18del ENSP00000475939.1:n.3000+16_3000+18del
ENST00000620169.4:c.3000+16_3000+18del ENSP00000481693.1:n.3000+16_3000+18del
NM_001277115.1:c.3000+16_3000+18del NP_001264044.1:n.3000+16_3000+18del
NM_001277115.2:c.3000+16_3000+18del MANE Select NP_001264044.1:n.3000+16_3000+18del
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