Canonical Allele Identifier: CA454138892
Gene: DNAH11 HGNC NCBI

Linked Data

ClinVar Variation Id: 2040497
ClinVar RCV Id: RCV002886450
dbSNP Id: rs754826899
gnomAD v2: 7-21582968-C-CGAG
gnomAD v3: 7-21543350-C-CGAG
gnomAD v4: 7-21543350-C-CGAG
MyVariant Identifiers: chr7:g.21582971_21582972insGAG (hg19) chr7:g.21582968_21582969insGAG (hg19) chr7:g.21543353_21543354insGAG (hg38) chr7:g.21543350_21543351insGAG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21543363_21543365dup , CM000669.2:g.21543363_21543365dup GRCh38
NC_000007.13:g.21582981_21582983dup , CM000669.1:g.21582981_21582983dup GRCh37
NC_000007.12:g.21549506_21549508dup NCBI36
NG_012886.2:g.5149_5151dup

Transcript Alleles

HGVS Amino-acid change
ENST00000409508.8:c.118_120dup MANE Select ENSP00000475939.1:p.Glu40_Asn41insGlu
ENST00000328843.10:c.118_120dup ENSP00000330671.7:p.Glu40_Asn41insGlu
ENST00000409508.7:c.118_120dup ENSP00000475939.1:p.Glu40_Asn41insGlu
ENST00000620169.4:c.118_120dup ENSP00000481693.1:p.Glu40_Asn41insGlu
NM_001277115.1:c.118_120dup NP_001264044.1:p.Glu40_Asn41insGlu
NM_001277115.2:c.118_120dup MANE Select NP_001264044.1:p.Glu40_Asn41insGlu
Search 100 bp 5'
Search 100 bp 3'