Linked Data
gnomAD v4:
19-7527548-GC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7527553del , CM000681.2:g.7527553del | GRCh38 |
| NC_000019.9:g.7592439del , CM000681.1:g.7592439del | GRCh37 |
| NC_000019.8:g.7498439del | NCBI36 |
| NG_015806.1:g.9944del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.605del MANE Select | ENSP00000264079.5:p.Pro202LeufsTer? | |
| ENST00000264079.10:c.605del | ENSP00000264079.5:p.Pro202LeufsTer? | |
| ENST00000394321.9:n.685del | ||
| ENST00000598406.1:n.426del | ||
| ENST00000601003.1:c.572-311del | ENSP00000469074.1:n.572-311del | |
| NM_020533.2:c.605del | NP_065394.1:p.Pro202LeufsTer? | |
| NM_020533.3:c.605del MANE Select | NP_065394.1:p.Pro202LeufsTer? |