Linked Data
gnomAD v4:
2-240873880-GTCGTAGCCTAC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240873881_240873891del , CM000664.2:g.240873881_240873891del | GRCh38 |
| NC_000002.11:g.241813298_241813308del , CM000664.1:g.241813298_241813308del | GRCh37 |
| NC_000002.10:g.241461971_241461981del | NCBI36 |
| NG_008005.1:g.10137_10147del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.596-97_596-87del MANE Select | ENSP00000302620.3:n.596-97_596-87del | |
| ENST00000307503.3:c.596-97_596-87del | ENSP00000302620.3:n.596-97_596-87del | |
| ENST00000476698.1:n.332+832_332+842del | ||
| NM_000030.2:c.596-97_596-87del | NP_000021.1:n.596-97_596-87del | |
| NM_000030.3:c.596-97_596-87del MANE Select | NP_000021.1:n.596-97_596-87del |