Linked Data
dbSNP Id:
rs1342585634
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23433703_23433705del , CM000676.2:g.23433703_23433705del | GRCh38 |
| NC_000014.8:g.23902912_23902914del , CM000676.1:g.23902912_23902914del | GRCh37 |
| NC_000014.7:g.22972752_22972754del | NCBI36 |
| NG_007884.1:g.6958_6960del , LRG_384:g.6958_6960del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.29_31del MANE Select | ENSP00000347507.3:p.Gly10del | |
| ENST00000355349.3:c.29_31del | ENSP00000347507.3:p.Gly10del | |
| NM_000257.3:c.29_31del | NP_000248.2:p.Gly10del | |
| XR_245686.3:n.135_137del | ||
| XM_017021340.1:c.29_31del | XP_016876829.1:p.Gly10del | |
| NM_000257.4:c.29_31del MANE Select | NP_000248.2:p.Gly10del |