Canonical Allele Identifier: CA4183011
Gene: DNAH11 HGNC NCBI

Linked Data

ClinVar Variation Id: 2920429
ClinVar RCV Id: RCV003653164
dbSNP Id: rs774304164
ExAC: 7:21920334 A / AT
gnomAD v2: 7-21920334-A-AT
gnomAD v4: 7-21880716-A-AT
MyVariant Identifiers: chr7:g.21920334_21920335insT (hg19) chr7:g.21880716_21880717insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21880717dup , CM000669.2:g.21880717dup GRCh38
NC_000007.13:g.21920335dup , CM000669.1:g.21920335dup GRCh37
NC_000007.12:g.21886860dup NCBI36
NG_012886.2:g.342503dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.12211dup MANE Select ENSP00000475939.1:p.Cys4071LeufsTer8
ENST00000328843.10:c.12232dup ENSP00000330671.7:p.Cys4078LeufsTer8
ENST00000409508.7:c.12211dup ENSP00000475939.1:p.Cys4071LeufsTer8
ENST00000620169.4:c.12232dup ENSP00000481693.1:p.Cys4078LeufsTer8
NM_001277115.1:c.12211dup NP_001264044.1:p.Cys4071LeufsTer8
NM_001277115.2:c.12211dup MANE Select NP_001264044.1:p.Cys4071LeufsTer8
Search 100 bp 5'
Search 100 bp 3'