Linked Data
gnomAD v4:
6-42721692-GC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42721694del , CM000668.2:g.42721694del | GRCh38 |
| NC_000006.11:g.42689432del , CM000668.1:g.42689432del | GRCh37 |
| NC_000006.10:g.42797410del | NCBI36 |
| NG_009176.1:g.5928del | |
| NG_009176.2:g.5928del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000230381.7:c.581+61del MANE Select | ENSP00000230381.5:n.581+61del | |
| ENST00000230381.6:c.581+61del | ENSP00000230381.5:n.581+61del | |
| NM_000322.4:c.581+61del | NP_000313.2:n.581+61del | |
| XR_427834.2:n.1236+61del | ||
| XR_926295.1:n.1236+61del | ||
| XR_427834.4:n.1286+61del | ||
| XR_926295.3:n.1286+61del | ||
| NM_000322.5:c.581+61del MANE Select | NP_000313.2:n.581+61del |