Linked Data
ClinVar Variation Id:
126838
ClinVar RCV Id:
RCV000114731
dbSNP Id:
rs587778832
gnomAD v4:
13-48380197-CTT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48380199_48380200del , CM000675.2:g.48380199_48380200del | GRCh38 |
| NC_000013.10:g.48954335_48954336del , CM000675.1:g.48954335_48954336del | GRCh37 |
| NC_000013.9:g.47852336_47852337del | NCBI36 |
| NG_009009.1:g.81453_81454del , LRG_517:g.81453_81454del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000267163.6:c.1456_1457del MANE Select | ENSP00000267163.4:p.Leu486IlefsTer6 | |
| ENST00000650461.1:c.1456_1457del | ENSP00000497193.1:p.Leu486IlefsTer6 | |
| ENST00000267163.4:c.1456_1457del | ENSP00000267163.4:p.Leu486IlefsTer6 | |
| NM_000321.2:c.1456_1457del , LRG_517t1:c.1456_1457del | NP_000312.2:p.Leu486IlefsTer6 | |
| XM_011535171.1:c.1195_1196del | XP_011533473.1:p.Leu399IlefsTer6 | |
| XM_011535171.2:c.1195_1196del | XP_011533473.1:p.Leu399IlefsTer6 | |
| NM_000321.3:c.1456_1457del MANE Select | NP_000312.2:p.Leu486IlefsTer6 |