Canonical Allele Identifier: CA2593856243
Gene: DNAH11 HGNC NCBI

Linked Data

gnomAD v3: 7-21558693-T-TA
gnomAD v4: 7-21558693-T-TA
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21558693_21558694insA , CM000669.2:g.21558693_21558694insA GRCh38
NC_000007.13:g.21598311_21598312insA , CM000669.1:g.21598311_21598312insA GRCh37
NC_000007.12:g.21564836_21564837insA NCBI36
NG_012886.2:g.20479_20480insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.496-109_496-108insA MANE Select ENSP00000475939.1:n.496-109_496-108insA
ENST00000328843.10:c.496-109_496-108insA ENSP00000330671.7:n.496-109_496-108insA
ENST00000409508.7:c.496-109_496-108insA ENSP00000475939.1:n.496-109_496-108insA
ENST00000620169.4:c.496-109_496-108insA ENSP00000481693.1:n.496-109_496-108insA
NM_001277115.1:c.496-109_496-108insA NP_001264044.1:n.496-109_496-108insA
NM_001277115.2:c.496-109_496-108insA MANE Select NP_001264044.1:n.496-109_496-108insA
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