Linked Data
ClinVar Variation Id:
548554
dbSNP Id:
rs752856195
ExAC:
20:31024623 GAGA / G
gnomAD v2:
20-31024623-GAGA-G
gnomAD v3:
20-32436820-GAGA-G
gnomAD v4:
20-32436820-GAGA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.32436824_32436826del , CM000682.2:g.32436824_32436826del | GRCh38 |
| NC_000020.10:g.31024627_31024629del , CM000682.1:g.31024627_31024629del | GRCh37 |
| NC_000020.9:g.30488288_30488290del | NCBI36 |
| NG_027868.1:g.83481_83483del , LRG_630:g.83481_83483del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375687.10:c.4112_4114del MANE Select | ENSP00000364839.4:p.Lys1371del | |
| ENST00000646985.1:c.3929_3931del | ENSP00000495053.1:p.Lys1310del | |
| ENST00000647223.1:n.6465_6467del | ||
| ENST00000651418.1:c.1870-1606_1870-1604del | ENSP00000499150.1:n.1870-1606_1870-1604del | |
| ENST00000306058.9:c.4097_4099del | ENSP00000305119.5:p.Lys1366del | |
| ENST00000375687.8:c.4112_4114del | ENSP00000364839.4:p.Lys1371del | |
| ENST00000613218.4:c.4112_4114del | ENSP00000480487.1:p.Lys1371del | |
| ENST00000620121.4:c.4112_4114del | ENSP00000481978.1:p.Lys1371del | |
| NM_015338.5:c.4112_4114del , LRG_630t1:c.4112_4114del | NP_056153.2:p.Lys1371del | |
| XM_006723727.2:c.4109_4111del | XP_006723790.1:p.Lys1370del | |
| XM_006723728.2:c.4082_4084del | XP_006723791.1:p.Lys1361del | |
| XM_006723730.2:c.4028_4030del | XP_006723793.1:p.Lys1343del | |
| XM_006723732.2:c.3929_3931del | XP_006723795.1:p.Lys1310del | |
| XM_006723733.1:c.3428_3430del | XP_006723796.1:p.Lys1143del | |
| XM_011528647.1:c.4376_4378del | XP_011526949.1:p.Lys1459del | |
| XM_011528648.1:c.4373_4375del | XP_011526950.1:p.Lys1458del | |
| XM_011528649.1:c.4292_4294del | XP_011526951.1:p.Lys1431del | |
| XM_011528650.1:c.4223_4225del | XP_011526952.1:p.Lys1408del | |
| XM_011528651.1:c.4091_4093del | XP_011526953.1:p.Lys1364del | |
| XM_011528652.1:c.4028_4030del | XP_011526954.1:p.Lys1343del | |
| NM_001363734.1:c.3929_3931del | NP_001350663.1:p.Lys1310del | |
| XM_006723727.3:c.4109_4111del | XP_006723790.1:p.Lys1370del | |
| XM_006723728.3:c.4082_4084del | XP_006723791.1:p.Lys1361del | |
| XM_006723730.4:c.4028_4030del | XP_006723793.1:p.Lys1343del | |
| XM_011528648.3:c.4373_4375del | XP_011526950.1:p.Lys1458del | |
| XM_011528652.2:c.4028_4030del | XP_011526954.1:p.Lys1343del | |
| XM_017027704.1:c.4028_4030del | XP_016883193.1:p.Lys1343del | |
| XM_017027705.1:c.4028_4030del | XP_016883194.1:p.Lys1343del | |
| XM_017027706.1:c.3959_3961del | XP_016883195.1:p.Lys1320del | |
| NM_015338.6:c.4112_4114del MANE Select | NP_056153.2:p.Lys1371del |