Linked Data
gnomAD v4:
2-240868830-GC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240868834del , CM000664.2:g.240868834del | GRCh38 |
| NC_000002.11:g.241808251del , CM000664.1:g.241808251del | GRCh37 |
| NC_000002.10:g.241456924del | NCBI36 |
| NG_008005.1:g.5090del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.-32del MANE Select | ENSP00000302620.3:n.-32del | |
| ENST00000307503.3:c.-32del | ENSP00000302620.3:n.-32del | |
| NM_000030.2:c.-32del | NP_000021.1:n.-32del | |
| XR_924060.1:n.405+1402del | ||
| NM_000030.3:c.-32del MANE Select | NP_000021.1:n.-32del |