Linked Data
dbSNP Id:
rs753635704
ExAC:
17:74465351 AG / A
gnomAD v2:
17-74465351-AG-A
gnomAD v4:
17-76469269-AG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.76469272del , CM000679.2:g.76469272del | GRCh38 |
| NC_000017.10:g.74465354del , CM000679.1:g.74465354del | GRCh37 |
| NC_000017.9:g.71976949del | NCBI36 |
| NG_015976.1:g.20922del | |
| NG_032852.1:g.37158del , LRG_532:g.37158del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392492.8:c.263del MANE Select | ENSP00000376282.2:p.Gly88AlafsTer22 | |
| ENST00000250615.7:c.398del | ENSP00000250615.2:p.Gly133AlafsTer22 | |
| ENST00000392492.7:c.263del | ENSP00000376282.2:p.Gly88AlafsTer22 | |
| ENST00000585649.1:c.377del | ENSP00000468717.1:p.Gly126AlafsTer22 | |
| ENST00000587798.1:c.*40del | ENSP00000468239.1:n.*40del | |
| NM_001088.2:c.263del | NP_001079.1:p.Gly88AlafsTer22 | |
| NM_001166579.1:c.398del | NP_001160051.1:p.Gly133AlafsTer22 | |
| NR_110548.1:n.574del | ||
| XM_011524415.1:c.263del | XP_011522717.1:p.Gly88AlafsTer22 | |
| XM_011524416.1:c.470del | XP_011522718.1:p.Gly157AlafsTer22 | |
| XM_011524417.1:c.470del | XP_011522719.1:p.Gly157AlafsTer22 | |
| XM_011524418.1:c.470del | XP_011522720.1:p.Gly157AlafsTer22 | |
| XM_011524419.1:c.470del | XP_011522721.1:p.Gly157AlafsTer22 | |
| XM_011524420.1:c.470del | XP_011522722.1:p.Gly157AlafsTer22 | |
| XM_011524421.1:c.470del | XP_011522723.1:p.Gly157AlafsTer22 | |
| XM_011524422.1:c.353del | XP_011522724.1:p.Gly118AlafsTer22 | |
| XM_011524423.1:c.263del | XP_011522725.1:p.Gly88AlafsTer22 | |
| XM_017024259.1:c.377del | XP_016879748.1:p.Gly126AlafsTer22 | |
| NM_001088.3:c.263del MANE Select | NP_001079.1:p.Gly88AlafsTer22 | |
| NR_110548.2:n.519del | ||
| NM_001166579.2:c.398del | NP_001160051.1:p.Gly133AlafsTer22 |