Linked Data
gnomAD v4:
2-240877167-AG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240877172del , CM000664.2:g.240877172del | GRCh38 |
| NC_000002.11:g.241816589del , CM000664.1:g.241816589del | GRCh37 |
| NC_000002.10:g.241465262del | NCBI36 |
| NG_008005.1:g.13428del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.847-365del MANE Select | ENSP00000302620.3:n.847-365del | |
| ENST00000307503.3:c.847-365del | ENSP00000302620.3:n.847-365del | |
| ENST00000470255.1:n.260del | ||
| NM_000030.2:c.847-365del | NP_000021.1:n.847-365del | |
| NM_000030.3:c.847-365del MANE Select | NP_000021.1:n.847-365del |