Linked Data
gnomAD v4:
2-240873184-ACT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240873186_240873187del , CM000664.2:g.240873186_240873187del | GRCh38 |
| NC_000002.11:g.241812603_241812604del , CM000664.1:g.241812603_241812604del | GRCh37 |
| NC_000002.10:g.241461276_241461277del | NCBI36 |
| NG_008005.1:g.9442_9443del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.595+137_595+138del MANE Select | ENSP00000302620.3:n.595+137_595+138del | |
| ENST00000307503.3:c.595+137_595+138del | ENSP00000302620.3:n.595+137_595+138del | |
| ENST00000472436.1:n.752_753del | ||
| ENST00000476698.1:n.332+137_332+138del | ||
| NM_000030.2:c.595+137_595+138del | NP_000021.1:n.595+137_595+138del | |
| NM_000030.3:c.595+137_595+138del MANE Select | NP_000021.1:n.595+137_595+138del |