Linked Data
dbSNP Id:
rs1567312933
gnomAD v2:
16-1561025-CG-C
gnomAD v4:
16-1511024-CG-C
MyVariant Identifiers:
chr16:g.1561026del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1511028del , CM000678.2:g.1511028del | GRCh38 |
| NC_000016.9:g.1561029del , CM000678.1:g.1561029del | GRCh37 |
| NC_000016.8:g.1501030del | NCBI36 |
| NG_032783.1:g.106084del | |
| NG_050910.1:g.22685del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426508.7:c.4308del MANE Select | ENSP00000406012.2:p.Glu1437SerfsTer? | |
| ENST00000361339.9:c.1890del | ENSP00000354895.5:p.Glu631SerfsTer? | |
| ENST00000397417.6:c.*2746del | ENSP00000380562.2:n.*2746del | |
| ENST00000426508.6:c.4308del | ENSP00000406012.2:p.Glu1437SerfsTer? | |
| ENST00000565298.5:n.4132del | ||
| NM_014714.3:c.4308del | NP_055529.2:p.Glu1437SerfsTer? | |
| XM_006720989.2:c.4308del | XP_006721052.1:p.Glu1437SerfsTer? | |
| XM_006720990.2:c.4308del | XP_006721053.1:p.Glu1437SerfsTer? | |
| XM_006720991.2:c.4308del | XP_006721054.1:p.Glu1437SerfsTer? | |
| XM_006720992.2:c.1941del | XP_006721055.1:p.Glu648SerfsTer? | |
| XM_011522766.1:c.4062del | XP_011521068.1:p.Glu1355SerfsTer? | |
| XM_011522767.1:c.3333del | XP_011521069.1:p.Glu1112SerfsTer? | |
| XM_006720990.3:c.4308del | XP_006721053.1:p.Glu1437SerfsTer? | |
| XM_006720991.3:c.4308del | XP_006721054.1:p.Glu1437SerfsTer? | |
| XM_006720992.3:c.1941del | XP_006721055.1:p.Glu648SerfsTer? | |
| XM_011522766.3:c.4062del | XP_011521068.1:p.Glu1355SerfsTer? | |
| XM_011522767.2:c.3333del | XP_011521069.1:p.Glu1112SerfsTer? | |
| XM_017023910.1:c.4308del | XP_016879399.1:p.Glu1437SerfsTer? | |
| XM_017023911.1:c.2493del | XP_016879400.1:p.Glu832SerfsTer? | |
| NM_014714.4:c.4308del MANE Select | NP_055529.2:p.Glu1437SerfsTer? |