Linked Data
ClinVar Variation Id:
162465
ClinVar RCV Id:
RCV000149850
dbSNP Id:
rs724160008
COSMIC:
COSM1717748
PubMed:
PMID:23416519
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.116387403_116387417del , CM000663.2:g.116387403_116387417del | GRCh38 |
| NC_000001.10:g.116930025_116930039del , CM000663.1:g.116930025_116930039del | GRCh37 |
| NC_000001.9:g.116731548_116731562del | NCBI36 |
| NG_047036.1:g.20219_20233del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295598.10:c.299_313del MANE Select | ENSP00000295598.5:p.Phe100_Leu104del | |
| ENST00000295598.9:c.299_313del | ENSP00000295598.5:p.Phe100_Leu104del | |
| ENST00000369494.5:c.206_220del | ENSP00000358506.1:p.Phe69_Leu73del | |
| ENST00000369496.8:c.206_220del | ENSP00000358508.4:p.Phe69_Leu73del | |
| ENST00000418797.5:c.206_220del | ENSP00000400124.1:p.Phe69_Leu73del | |
| ENST00000463382.1:n.101_115del | ||
| ENST00000537345.5:c.299_313del | ENSP00000445306.1:p.Phe100_Leu104del | |
| NM_000701.7:c.299_313del | NP_000692.2:p.Phe100_Leu104del | |
| NM_001160233.1:c.299_313del | NP_001153705.1:p.Phe100_Leu104del | |
| NM_001160234.1:c.206_220del | NP_001153706.1:p.Phe69_Leu73del | |
| XM_006710655.2:c.206_220del | XP_006710718.1:p.Phe69_Leu73del | |
| XM_017001360.1:c.206_220del | XP_016856849.1:p.Phe69_Leu73del | |
| XM_017001361.1:c.206_220del | XP_016856850.1:p.Phe69_Leu73del | |
| XR_002956654.1:n.825_839del | ||
| NM_000701.8:c.299_313del MANE Select | NP_000692.2:p.Phe100_Leu104del | |
| NM_001160233.2:c.299_313del | NP_001153705.1:p.Phe100_Leu104del | |
| NM_001160234.2:c.206_220del | NP_001153706.1:p.Phe69_Leu73del |