Linked Data
ClinVar Variation Id:
213862
ClinVar RCV Id:
RCV000195959
dbSNP Id:
rs863223804
gnomAD v4:
9-99105254-CTGGCGGCGG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.99105255_99105263del , CM000671.2:g.99105255_99105263del | GRCh38 |
| NC_000009.11:g.101867537_101867545del , CM000671.1:g.101867537_101867545del | GRCh37 |
| NC_000009.10:g.100907358_100907366del | NCBI36 |
| NG_007461.1:g.5126_5134del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000547314.6:c.-111+1149_-111+1157del | ENSP00000449934.2:n.-111+1149_-111+1157del | |
| ENST00000552573.7:c.-111+1149_-111+1157del | ENSP00000447182.3:n.-111+1149_-111+1157del | |
| ENST00000698941.1:c.-111+130_-111+138del | ENSP00000514048.1:n.-111+130_-111+138del | |
| ENST00000374994.9:c.50_58del MANE Select | ENSP00000364133.4:p.Leu17_Ala20delinsPro | |
| ENST00000374990.6:c.50_58del | ENSP00000364129.2:p.Leu17_Ala20delinsPro | |
| ENST00000374994.8:c.50_58del | ENSP00000364133.4:p.Leu17_Ala20delinsPro | |
| ENST00000547314.5:c.-111+1149_-111+1157del | ENSP00000449934.1:n.-111+1149_-111+1157del | |
| ENST00000549766.5:c.50_58del | ENSP00000446685.1:p.Leu17_Ala20delinsPro | |
| ENST00000552516.5:c.50_58del | ENSP00000447297.1:p.Leu17_Ala20delinsPro | |
| ENST00000552573.6:c.-111+1149_-111+1157del | ENSP00000447182.2:n.-111+1149_-111+1157del | |
| NM_001130916.1:c.50_58del | NP_001124388.1:p.Leu17_Ala20delinsPro | |
| NM_001130916.2:c.50_58del | NP_001124388.1:p.Leu17_Ala20delinsPro | |
| NM_001306210.1:c.50_58del | NP_001293139.1:p.Leu17_Ala20delinsPro | |
| NM_004612.2:c.50_58del | NP_004603.1:p.Leu17_Ala20delinsPro | |
| NM_004612.3:c.50_58del | NP_004603.1:p.Leu17_Ala20delinsPro | |
| XM_011518949.1:c.-111+1149_-111+1157del | XP_011517251.1:n.-111+1149_-111+1157del | |
| XM_011518949.2:c.-111+1149_-111+1157del | XP_011517251.1:n.-111+1149_-111+1157del | |
| XM_017015063.1:c.-111+130_-111+138del | XP_016870552.1:n.-111+130_-111+138del | |
| NM_004612.4:c.50_58del MANE Select | NP_004603.1:p.Leu17_Ala20delinsPro | |
| NM_001130916.3:c.50_58del | NP_001124388.1:p.Leu17_Ala20delinsPro | |
| NM_001306210.2:c.50_58del | NP_001293139.1:p.Leu17_Ala20delinsPro |