Linked Data
gnomAD v4:
10-114043930-GGCGGCGGCGGCGGCA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.114043936_114043950del , CM000672.2:g.114043936_114043950del | GRCh38 |
| NC_000010.10:g.115803695_115803709del , CM000672.1:g.115803695_115803709del | GRCh37 |
| NC_000010.9:g.115793685_115793699del | NCBI36 |
| NG_012187.1:g.4890_4904del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369295.4:c.-197_-183del MANE Select | ENSP00000358301.2:n.-197_-183del | |
| NM_000684.3:c.-197_-183del MANE Select | NP_000675.1:n.-197_-183del |