ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38507824_38507831delinsAAGCGG , CM000681.2:g.38507824_38507831delinsAAGCGG | GRCh38 |
| NC_000019.9:g.38998464_38998471delinsAAGCGG , CM000681.1:g.38998464_38998471delinsAAGCGG | GRCh37 |
| NC_000019.8:g.43690304_43690311delinsAAGCGG | NCBI36 |
| NG_008866.1:g.79125_79132delinsAAGCGG , LRG_766:g.79125_79132delinsAAGCGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000599547.6:c.8929_8932+4delinsAAGCGG | ||
| ENST00000359596.8:c.8929_8932+4delinsAAGCGG | ||
| ENST00000355481.8:c.8929_8932+4delinsAAGCGG | ||
| ENST00000359596.7:c.8929_8932+4delinsAAGCGG | ||
| ENST00000360985.7:c.8926_8929+4delinsAAGCGG | ||
| ENST00000594335.5:c.2381_2384+4delinsAAGCGG | ||
| NM_000540.2:c.8929_8932+4delinsAAGCGG , LRG_766t1:c.8929_8932+4delinsAAGCGG | ||
| NM_001042723.1:c.8929_8932+4delinsAAGCGG | ||
| XM_006723317.1:c.8929_8932+4delinsAAGCGG | ||
| XM_006723319.1:c.8929_8932+4delinsAAGCGG | ||
| XM_011527204.1:c.8926_8929+4delinsAAGCGG | ||
| XM_011527205.1:c.8929_8932+4delinsAAGCGG | ||
| XM_006723317.2:c.8929_8932+4delinsAAGCGG | ||
| XM_006723319.2:c.8929_8932+4delinsAAGCGG | ||
| XM_011527205.2:c.8929_8932+4delinsAAGCGG | ||
| XR_001753735.1:n.9012_9015+4delinsAAGCGG | ||
| NM_000540.3:c.8929_8932+4delinsAAGCGG | ||
| NM_001042723.2:c.8929_8932+4delinsAAGCGG |