Linked Data
gnomAD v4:
19-616037-CCGCTCGTG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.616038_616045del , CM000681.2:g.616038_616045del | GRCh38 |
| NC_000019.9:g.616038_616045del , CM000681.1:g.616038_616045del | GRCh37 |
| NC_000019.8:g.567038_567045del | NCBI36 |
| NG_023049.1:g.22524_22531del | |
| NG_052810.1:g.31146_31153del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251287.3:c.2234_2241del MANE Select | ENSP00000251287.1:p.Pro745ArgfsTer? | |
| ENST00000251287.2:c.2234_2241del | ENSP00000251287.1:p.Pro745ArgfsTer? | |
| NM_001194.3:c.2234_2241del | NP_001185.3:p.Pro745ArgfsTer? | |
| NM_001194.4:c.2234_2241del MANE Select | NP_001185.3:p.Pro745ArgfsTer? |