Linked Data
gnomAD v4:
3-129532548-CAGGAG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.129532549_129532553del , CM000665.2:g.129532549_129532553del | GRCh38 |
| NC_000003.11:g.129251392_129251396del , CM000665.1:g.129251392_129251396del | GRCh37 |
| NC_000003.10:g.130734082_130734086del | NCBI36 |
| NG_009115.1:g.8911_8915del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296271.4:c.713_717del MANE Select | ENSP00000296271.3:p.Gln238LeufsTer? | |
| ENST00000296271.3:c.713_717del | ENSP00000296271.3:p.Gln238LeufsTer? | |
| NM_000539.3:c.713_717del MANE Select | NP_000530.1:p.Gln238LeufsTer? |