Linked Data
gnomAD v4:
2-21002342-ATTG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21002343_21002345del , CM000664.2:g.21002343_21002345del | GRCh38 |
| NC_000002.11:g.21225215_21225217del , CM000664.1:g.21225215_21225217del | GRCh37 |
| NC_000002.10:g.21078720_21078722del | NCBI36 |
| NG_011793.1:g.46729_46731del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233242.5:c.13077_13079del MANE Select | ENSP00000233242.1:p.Asn4360del | |
| ENST00000616098.4:c.13075_13077del | ENSP00000477990.1:n.13075_13077del | |
| NM_000384.2:c.13077_13079del | NP_000375.2:p.Asn4360del | |
| XM_011532809.1:c.5870-3072_5870-3070del | XP_011531111.1:n.5870-3072_5870-3070del | |
| NM_000384.3:c.13077_13079del MANE Select | NP_000375.3:p.Asn4360del |