Canonical Allele Identifier: CA1099209011
Gene: DNAH11 HGNC NCBI

Linked Data

dbSNP Id: rs1786848710
gnomAD v3: 7-21636032-AGAT-A
gnomAD v4: 7-21636032-AGAT-A
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21636033_21636035del , CM000669.2:g.21636033_21636035del GRCh38
NC_000007.13:g.21675651_21675653del , CM000669.1:g.21675651_21675653del GRCh37
NC_000007.12:g.21642176_21642178del NCBI36
NG_012886.2:g.97819_97821del

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.4663_4665del MANE Select ENSP00000475939.1:p.Asp1555del
ENST00000328843.10:c.4678_4680del ENSP00000330671.7:p.Asp1560del
ENST00000409508.7:c.4663_4665del ENSP00000475939.1:p.Asp1555del
ENST00000465593.1:n.689_691del
ENST00000620169.4:c.4678_4680del ENSP00000481693.1:p.Asp1560del
NM_001277115.1:c.4663_4665del NP_001264044.1:p.Asp1555del
NM_001277115.2:c.4663_4665del MANE Select NP_001264044.1:p.Asp1555del
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