Canonical Allele Identifier: CA573292092
Gene: DNAH11 HGNC NCBI

Linked Data

dbSNP Id: rs1298191688
gnomAD v2: 7-21582971-G-GGAGGAGGAGGAGAAC
gnomAD v3: 7-21543353-G-GGAGGAGGAGGAGAAC
gnomAD v4: 7-21543353-G-GGAGGAGGAGGAGAAC
MyVariant Identifiers: chr7:g.21582971_21582972insGAGGAGGAGGAGAAC (hg19) chr7:g.21543353_21543354insGAGGAGGAGGAGAAC (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.21543364_21543378dup , CM000669.2:g.21543364_21543378dup GRCh38
NC_000007.13:g.21582982_21582996dup , CM000669.1:g.21582982_21582996dup GRCh37
NC_000007.12:g.21549507_21549521dup NCBI36
NG_012886.2:g.5150_5164dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000409508.8:c.119_133dup MANE Select ENSP00000475939.1:p.Glu44_Ala45insGluAsnGluGluGlu
ENST00000328843.10:c.119_133dup ENSP00000330671.7:p.Glu44_Ala45insGluAsnGluGluGlu
ENST00000409508.7:c.119_133dup ENSP00000475939.1:p.Glu44_Ala45insGluAsnGluGluGlu
ENST00000620169.4:c.119_133dup ENSP00000481693.1:p.Glu44_Ala45insGluAsnGluGluGlu
NM_001277115.1:c.119_133dup NP_001264044.1:p.Glu44_Ala45insGluAsnGluGluGlu
NM_001277115.2:c.119_133dup MANE Select NP_001264044.1:p.Glu44_Ala45insGluAsnGluGluGlu
Search 100 bp 5'
Search 100 bp 3'