Canonical Allele Identifier: CA4183005
Gene: DNAH11 HGNC NCBI

Linked Data

ClinVar Variation Id: 2414529
ClinVar RCV Id: RCV003108364
dbSNP Id: rs768711937
ExAC: 7:21920308 C / CT
gnomAD v2: 7-21920308-C-CT
gnomAD v4: 7-21880690-C-CT
MyVariant Identifiers: chr7:g.21920308_21920309insT (hg19) chr7:g.21880690_21880691insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21880696dup , CM000669.2:g.21880696dup GRCh38
NC_000007.13:g.21920314dup , CM000669.1:g.21920314dup GRCh37
NC_000007.12:g.21886839dup NCBI36
NG_012886.2:g.342482dup

Transcript Alleles

HGVS Amino-acid change
ENST00000409508.8:c.12196-6dup MANE Select ENSP00000475939.1:n.12196-6dup
ENST00000328843.10:c.12217-6dup ENSP00000330671.7:n.12217-6dup
ENST00000409508.7:c.12196-6dup ENSP00000475939.1:n.12196-6dup
ENST00000620169.4:c.12217-6dup ENSP00000481693.1:n.12217-6dup
NM_001277115.1:c.12196-6dup NP_001264044.1:n.12196-6dup
NM_001277115.2:c.12196-6dup MANE Select NP_001264044.1:n.12196-6dup
Search 100 bp 5'
Search 100 bp 3'