Linked Data
ClinVar Variation Id:
42677
ClinVar RCV Id:
RCV000211813
dbSNP Id:
rs397515997
gnomAD v4:
11-47333706-AG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47333710del , CM000673.2:g.47333710del | GRCh38 |
| NC_000011.9:g.47355261del , CM000673.1:g.47355261del | GRCh37 |
| NC_000011.8:g.47311837del | NCBI36 |
| NG_007667.1:g.23996del , LRG_386:g.23996del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000545968.6:c.3040del MANE Select | ENSP00000442795.1:p.Leu1014TrpfsTer6 | |
| ENST00000256993.8:c.3040del | ENSP00000256993.5:p.Leu1014TrpfsTer6 | |
| ENST00000399249.6:c.3040del | ENSP00000382193.2:p.Leu1014TrpfsTer6 | |
| ENST00000545968.5:c.3040del | ENSP00000442795.1:p.Leu1014TrpfsTer6 | |
| NM_000256.3:c.3040del , LRG_386t1:c.3040del MANE Select | NP_000247.2:p.Leu1014TrpfsTer6 | |
| XM_011520117.1:c.3022del | XP_011518419.1:p.Leu1008TrpfsTer6 | |
| XM_011520118.1:c.2959del | XP_011518420.1:p.Leu987TrpfsTer6 |