Linked Data
gnomAD v4:
2-240879103-CT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240879104del , CM000664.2:g.240879104del | GRCh38 |
| NC_000002.11:g.241818521del , CM000664.1:g.241818521del | GRCh37 |
| NC_000002.10:g.241467194del | NCBI36 |
| NG_008005.1:g.15360del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.*283del MANE Select | ENSP00000302620.3:n.*283del | |
| ENST00000307503.3:c.*283del | ENSP00000302620.3:n.*283del | |
| ENST00000470255.1:n.1240del | ||
| NM_000030.2:c.*283del | NP_000021.1:n.*283del | |
| NM_000030.3:c.*283del MANE Select | NP_000021.1:n.*283del |