Linked Data
dbSNP Id:
rs528395427
gnomAD v2:
3-128200413-TC-T
gnomAD v3:
3-128481570-TC-T
gnomAD v4:
3-128481570-TC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.128481577del , CM000665.2:g.128481577del | GRCh38 |
| NC_000003.11:g.128200420del , CM000665.1:g.128200420del | GRCh37 |
| NC_000003.10:g.129683110del | NCBI36 |
| NG_029334.1:g.16617del , LRG_295:g.16617del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000487848.6:c.1143+248del MANE Plus Clinical | ENSP00000417074.1:n.1143+248del | |
| ENST00000696466.1:c.1425+248del | ENSP00000512647.1:n.1425+248del | |
| ENST00000696672.1:c.126+248del | ENSP00000512796.1:n.126+248del | |
| ENST00000341105.7:c.1143+248del MANE Select | ENSP00000345681.2:n.1143+248del | |
| ENST00000341105.6:c.1143+248del | ENSP00000345681.2:n.1143+248del | |
| ENST00000430265.6:c.1101+248del | ENSP00000400259.2:n.1101+248del | |
| ENST00000487848.5:c.1143+248del | ENSP00000417074.1:n.1143+248del | |
| ENST00000489987.1:n.260+248del | ||
| NM_001145661.1:c.1143+248del , LRG_295t1:c.1143+248del | NP_001139133.1:n.1143+248del | |
| NM_001145662.1:c.1101+248del | NP_001139134.1:n.1101+248del | |
| NM_032638.4:c.1143+248del , LRG_295t2:c.1143+248del | NP_116027.2:n.1143+248del | |
| NM_001145661.2:c.1143+248del MANE Plus Clinical | NP_001139133.1:n.1143+248del | |
| NM_032638.5:c.1143+248del MANE Select | NP_116027.2:n.1143+248del |