ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57764105_57764106insCGCATTTTTGG , CM000674.2:g.57764105_57764106insCGCATTTTTGG | GRCh38 |
| NC_000012.11:g.58157888_58157889insCGCATTTTTGG , CM000674.1:g.58157888_58157889insCGCATTTTTGG | GRCh37 |
| NC_000012.10:g.56444155_56444156insCGCATTTTTGG | NCBI36 |
| NG_007076.1:g.8097_8098insCGCCAAAAATG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000713544.1:c.1296+1_1296+2insCGCCAAAAATG | ||
| ENST00000713545.1:c.*220+1_*220+2insCGCCAAAAATG | ||
| ENST00000228606.9:c.1215+1_1215+2insCGCCAAAAATG | ||
| ENST00000228606.8:c.1215+1_1215+2insCGCCAAAAATG | ||
| ENST00000547344.5:n.1354+1_1354+2insCGCCAAAAATG | ||
| NM_000785.3:c.1215+1_1215+2insCGCCAAAAATG | ||
| NM_000785.4:c.1215+1_1215+2insCGCCAAAAATG |