Linked Data
gnomAD v4:
17-47733466-GGA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.47733468_47733469del , CM000679.2:g.47733468_47733469del | GRCh38 |
| NC_000017.10:g.45810834_45810835del , CM000679.1:g.45810834_45810835del | GRCh37 |
| NC_000017.9:g.43165833_43165834del | NCBI36 |
| NG_012166.1:g.5225_5226del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000177694.2:c.14_15del MANE Select | ENSP00000177694.1:p.Glu5AlafsTer? | |
| ENST00000177694.1:c.14_15del | ENSP00000177694.1:p.Glu5AlafsTer? | |
| ENST00000581328.1:n.44_45del | ||
| NM_013351.1:c.14_15del | NP_037483.1:p.Glu5AlafsTer? | |
| XM_011524698.1:c.14_15del | XP_011523000.1:p.Glu5AlafsTer? | |
| NM_013351.2:c.14_15del MANE Select | NP_037483.1:p.Glu5AlafsTer? |