Linked Data
ClinVar Variation Id:
201573
dbSNP Id:
rs794728924
gnomAD v2:
3-38592395-TCAGA-T
gnomAD v4:
3-38550904-TCAGA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.38550908_38550911del , CM000665.2:g.38550908_38550911del | GRCh38 |
| NC_000003.11:g.38592399_38592402del , CM000665.1:g.38592399_38592402del | GRCh37 |
| NC_000003.10:g.38567403_38567406del | NCBI36 |
| NG_008934.1:g.103765_103768del , LRG_289:g.103765_103768del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327956.7:c.5461_5464del | ENSP00000333674.7:p.Glu1822HisfsTer10 | |
| ENST00000333535.9:c.5464_5467del | ENSP00000328968.4:p.Glu1823HisfsTer10 | |
| ENST00000413689.6:c.5464_5467del MANE Plus Clinical | ENSP00000410257.1:p.Glu1823HisfsTer10 | |
| ENST00000423572.7:c.5461_5464del MANE Select | ENSP00000398266.2:p.Glu1822HisfsTer10 | |
| ENST00000333535.8:c.5464_5467del | ENSP00000328968.4:p.Glu1823HisfsTer10 | |
| ENST00000413689.5:c.5464_5467del | ENSP00000410257.1:p.Glu1823HisfsTer10 | |
| ENST00000414099.6:c.5410_5413del | ENSP00000398962.2:p.Glu1805HisfsTer10 | |
| ENST00000423572.6:c.5461_5464del | ENSP00000398266.2:p.Glu1822HisfsTer10 | |
| ENST00000425664.5:c.5410_5413del | ENSP00000416634.1:p.Glu1805HisfsTer10 | |
| ENST00000449557.6:c.5302_5305del | ENSP00000413996.2:p.Glu1769HisfsTer10 | |
| ENST00000450102.6:c.5302_5305del | ENSP00000403355.2:p.Glu1769HisfsTer10 | |
| ENST00000451551.6:c.5302_5305del | ENSP00000388797.2:p.Glu1769HisfsTer10 | |
| ENST00000455624.6:c.5365_5368del | ENSP00000399524.2:p.Glu1790HisfsTer10 | |
| NM_000335.4:c.5461_5464del , LRG_289t2:c.5461_5464del | NP_000326.2:p.Glu1822HisfsTer10 | |
| NM_001099404.1:c.5464_5467del , LRG_289t3:c.5464_5467del | NP_001092874.1:p.Glu1823HisfsTer10 | |
| NM_001099405.1:c.5410_5413del | NP_001092875.1:p.Glu1805HisfsTer10 | |
| NM_001160160.1:c.5365_5368del | NP_001153632.1:p.Glu1790HisfsTer10 | |
| NM_001160161.1:c.5302_5305del | NP_001153633.1:p.Glu1769HisfsTer10 | |
| NM_198056.2:c.5464_5467del , LRG_289t1:c.5464_5467del | NP_932173.1:p.Glu1823HisfsTer10 | |
| XM_006713282.2:c.5464_5467del | XP_006713345.1:p.Glu1823HisfsTer10 | |
| XM_011533991.1:c.5461_5464del | XP_011532293.1:p.Glu1822HisfsTer10 | |
| XM_011533992.1:c.5335_5338del | XP_011532294.1:p.Glu1780HisfsTer10 | |
| NM_001354701.1:c.5407_5410del | NP_001341630.1:p.Glu1804HisfsTer10 | |
| XM_011533991.2:c.5461_5464del | XP_011532293.1:p.Glu1822HisfsTer10 | |
| XM_017007017.1:c.5302_5305del | XP_016862506.1:p.Glu1769HisfsTer10 | |
| NM_000335.5:c.5461_5464del MANE Select | NP_000326.2:p.Glu1822HisfsTer10 | |
| NM_001160160.2:c.5365_5368del | NP_001153632.1:p.Glu1790HisfsTer10 | |
| NM_001354701.2:c.5407_5410del | NP_001341630.1:p.Glu1804HisfsTer10 | |
| NM_001099404.2:c.5464_5467del MANE Plus Clinical | NP_001092874.1:p.Glu1823HisfsTer10 | |
| NM_001099405.2:c.5410_5413del | NP_001092875.1:p.Glu1805HisfsTer10 | |
| NM_001160161.2:c.5302_5305del | NP_001153633.1:p.Glu1769HisfsTer10 | |
| NM_198056.3:c.5464_5467del | NP_932173.1:p.Glu1823HisfsTer10 |