Linked Data
gnomAD v4:
19-616048-GC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.616050del , CM000681.2:g.616050del | GRCh38 |
| NC_000019.9:g.616050del , CM000681.1:g.616050del | GRCh37 |
| NC_000019.8:g.567050del | NCBI36 |
| NG_023049.1:g.22520del | |
| NG_052810.1:g.31158del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251287.3:c.2246del MANE Select | ENSP00000251287.1:p.Pro749ArgfsTer? | |
| ENST00000251287.2:c.2246del | ENSP00000251287.1:p.Pro749ArgfsTer? | |
| NM_001194.3:c.2246del | NP_001185.3:p.Pro749ArgfsTer? | |
| NM_001194.4:c.2246del MANE Select | NP_001185.3:p.Pro749ArgfsTer? |