Linked Data
gnomAD v4:
2-240879031-CA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240879035del , CM000664.2:g.240879035del | GRCh38 |
| NC_000002.11:g.241818452del , CM000664.1:g.241818452del | GRCh37 |
| NC_000002.10:g.241467125del | NCBI36 |
| NG_008005.1:g.15291del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.*214del MANE Select | ENSP00000302620.3:n.*214del | |
| ENST00000307503.3:c.*214del | ENSP00000302620.3:n.*214del | |
| ENST00000470255.1:n.1171del | ||
| NM_000030.2:c.*214del | NP_000021.1:n.*214del | |
| NM_000030.3:c.*214del MANE Select | NP_000021.1:n.*214del |