Linked Data
gnomAD v4:
19-2251534-T-TC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.2251538dup , CM000681.2:g.2251538dup | GRCh38 |
| NC_000019.9:g.2251537dup , CM000681.1:g.2251537dup | GRCh37 |
| NC_000019.8:g.2202537dup | NCBI36 |
| NG_012190.1:g.7425dup | |
| NG_032853.1:g.9889dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221496.5:c.1264dup MANE Select | ENSP00000221496.2:p.Leu422ProfsTer? | |
| ENST00000221496.4:c.1264dup | ENSP00000221496.2:p.Leu422ProfsTer? | |
| ENST00000589313.2:n.1617dup | ||
| NM_000479.3:c.1264dup | NP_000470.2:p.Leu422ProfsTer? | |
| NM_000479.4:c.1264dup | NP_000470.2:p.Leu422ProfsTer? | |
| NM_000479.5:c.1264dup MANE Select | NP_000470.3:p.Leu422ProfsTer? |