Linked Data
gnomAD v4:
6-42722202-GT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42722204del , CM000668.2:g.42722204del | GRCh38 |
| NC_000006.11:g.42689942del , CM000668.1:g.42689942del | GRCh37 |
| NC_000006.10:g.42797920del | NCBI36 |
| NG_009176.1:g.5418del | |
| NG_009176.2:g.5418del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000230381.7:c.132del MANE Select | ENSP00000230381.5:p.Glu44AspfsTer8 | |
| ENST00000230381.6:c.132del | ENSP00000230381.5:p.Glu44AspfsTer8 | |
| NM_000322.4:c.132del | NP_000313.2:p.Glu44AspfsTer8 | |
| XR_427834.2:n.787del | ||
| XR_926295.1:n.787del | ||
| XR_427834.4:n.837del | ||
| XR_926295.3:n.837del | ||
| NM_000322.5:c.132del MANE Select | NP_000313.2:p.Glu44AspfsTer8 |