Linked Data
gnomAD v4:
19-2251838-C-CGCCCACCCTGCTGCGT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.2251846_2251861dup , CM000681.2:g.2251846_2251861dup | GRCh38 |
| NC_000019.9:g.2251845_2251860dup , CM000681.1:g.2251845_2251860dup | GRCh37 |
| NC_000019.8:g.2202845_2202860dup | NCBI36 |
| NG_012190.1:g.7733_7748dup | |
| NG_032853.1:g.9570_9585dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221496.5:c.1572_1587dup MANE Select | ENSP00000221496.2:p.Ala530LeufsTer? | |
| ENST00000221496.4:c.1572_1587dup | ENSP00000221496.2:p.Ala530LeufsTer? | |
| NM_000479.3:c.1572_1587dup | NP_000470.2:p.Ala530LeufsTer? | |
| NM_000479.4:c.1572_1587dup | NP_000470.2:p.Ala530LeufsTer? | |
| NM_000479.5:c.1572_1587dup MANE Select | NP_000470.3:p.Ala530LeufsTer? |