Canonical Allele Identifier: CA1099227719
Gene: DNAH11 HGNC NCBI

Linked Data

dbSNP Id: rs1789791821
gnomAD v3: 7-21816416-TTC-T
gnomAD v4: 7-21816416-TTC-T
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21816424_21816425del , CM000669.2:g.21816424_21816425del GRCh38
NC_000007.13:g.21856042_21856043del , CM000669.1:g.21856042_21856043del GRCh37
NC_000007.12:g.21822567_21822568del NCBI36
NG_012886.2:g.278210_278211del

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.10333-43_10333-42del MANE Select ENSP00000475939.1:n.10333-43_10333-42del
ENST00000328843.10:c.10354-43_10354-42del ENSP00000330671.7:n.10354-43_10354-42del
ENST00000409508.7:c.10333-43_10333-42del ENSP00000475939.1:n.10333-43_10333-42del
ENST00000620169.4:c.10354-43_10354-42del ENSP00000481693.1:n.10354-43_10354-42del
NM_001277115.1:c.10333-43_10333-42del NP_001264044.1:n.10333-43_10333-42del
NM_001277115.2:c.10333-43_10333-42del MANE Select NP_001264044.1:n.10333-43_10333-42del
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