Linked Data
dbSNP Id:
rs2034624641
gnomAD v3:
14-22468709-C-CGGGACGACCA
gnomAD v4:
14-22468709-C-CGGGACGACCA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.22468713_22468722dup , CM000676.2:g.22468713_22468722dup | GRCh38 |
| NC_000014.8:g.22937705_22937714dup , CM000676.1:g.22937705_22937714dup | GRCh37 |
| NC_000014.7:g.22007545_22007554dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_943593.1:n.776-3433_776-3424dup | ||
| XR_943594.1:n.541-3433_541-3424dup | ||
| XR_943595.1:n.541-3433_541-3424dup | ||
| XR_943596.1:n.776-3433_776-3424dup | ||
| NR_148361.1:n.225+12522_225+12531dup | ||
| XR_001750629.1:n.292-3433_292-3424dup |