Linked Data
gnomAD v4:
2-240878827-CCACTGGCACACAGCTGG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240878840_240878856del , CM000664.2:g.240878840_240878856del | GRCh38 |
| NC_000002.11:g.241818257_241818273del , CM000664.1:g.241818257_241818273del | GRCh37 |
| NC_000002.10:g.241466930_241466946del | NCBI36 |
| NG_008005.1:g.15096_15112del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.*19_*35del MANE Select | ENSP00000302620.3:n.*19_*35del | |
| ENST00000307503.3:c.*19_*35del | ENSP00000302620.3:n.*19_*35del | |
| ENST00000470255.1:n.976_992del | ||
| NM_000030.2:c.*19_*35del | NP_000021.1:n.*19_*35del | |
| NM_000030.3:c.*19_*35del MANE Select | NP_000021.1:n.*19_*35del |