Canonical Allele Identifier: CA573292091
Gene: DNAH11 HGNC NCBI

Linked Data

ClinVar Variation Id: 1943235
ClinVar RCV Id: RCV002650349
dbSNP Id: rs1409783994
gnomAD v2: 7-21582967-T-TCGAGGAGGAGGAGGAGAA
gnomAD v3: 7-21543349-T-TCGAGGAGGAGGAGGAGAA
gnomAD v4: 7-21543349-T-TCGAGGAGGAGGAGGAGAA
MyVariant Identifiers: chr7:g.21582967_21582968insCGAGGAGGAGGAGGAGAA (hg19) chr7:g.21543349_21543350insCGAGGAGGAGGAGGAGAA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21543361_21543378dup , CM000669.2:g.21543361_21543378dup GRCh38
NC_000007.13:g.21582979_21582996dup , CM000669.1:g.21582979_21582996dup GRCh37
NC_000007.12:g.21549504_21549521dup NCBI36
NG_012886.2:g.5147_5164dup

Transcript Alleles

HGVS Amino-acid change
ENST00000409508.8:c.116_133dup MANE Select ENSP00000475939.1:p.Glu44_Ala45insGluGluA...
ENST00000328843.10:c.116_133dup ENSP00000330671.7:p.Glu44_Ala45insGluGluA...
ENST00000409508.7:c.116_133dup ENSP00000475939.1:p.Glu44_Ala45insGluGluA...
ENST00000620169.4:c.116_133dup ENSP00000481693.1:p.Glu44_Ala45insGluGluA...
NM_001277115.1:c.116_133dup NP_001264044.1:p.Glu44_Ala45insGluGluAsnG...
NM_001277115.2:c.116_133dup MANE Select NP_001264044.1:p.Glu44_Ala45insGluGluAsnG...
Search 100 bp 5'
Search 100 bp 3'