Linked Data
dbSNP Id:
rs1353542936
gnomAD v2:
2-10188607-CTG-C
gnomAD v3:
2-10048480-CTG-C
gnomAD v4:
2-10048480-CTG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.10048484_10048485del , CM000664.2:g.10048484_10048485del | GRCh38 |
| NC_000002.11:g.10188611_10188612del , CM000664.1:g.10188611_10188612del | GRCh37 |
| NC_000002.10:g.10106062_10106063del | NCBI36 |
| NG_017199.1:g.9930_9931del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305883.6:c.1147_1148del MANE Select | ENSP00000307023.1:p.Val383ProfsTer29 | |
| ENST00000305883.5:c.1147_1148del | ENSP00000307023.1:p.Val383ProfsTer29 | |
| ENST00000535335.1:c.1096_1097del | ENSP00000442722.1:p.Val366ProfsTer29 | |
| ENST00000540845.5:c.1096_1097del | ENSP00000444690.1:p.Val366ProfsTer29 | |
| NM_001177716.1:c.1096_1097del | NP_001171187.1:p.Val366ProfsTer29 | |
| NM_001177718.1:c.1096_1097del | NP_001171189.1:p.Val366ProfsTer29 | |
| NM_003597.4:c.1147_1148del | NP_003588.1:p.Val383ProfsTer29 | |
| XM_005246179.3:c.1096_1097del | XP_005246236.1:p.Val366ProfsTer29 | |
| NM_003597.5:c.1147_1148del MANE Select | NP_003588.1:p.Val383ProfsTer29 | |
| NM_001177716.2:c.1096_1097del | NP_001171187.1:p.Val366ProfsTer29 | |
| NM_001177718.2:c.1096_1097del | NP_001171189.1:p.Val366ProfsTer29 |