Linked Data
ClinVar Variation Id:
4663
ClinVar RCV Id:
RCV000004927
dbSNP Id:
rs1554572756
PubMed:
PMID:15855260
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.93922910_93922912del , CM000670.2:g.93922910_93922912del | GRCh38 |
| NC_000008.10:g.94935138_94935140del , CM000670.1:g.94935138_94935140del | GRCh37 |
| NC_000008.9:g.95004314_95004316del | NCBI36 |
| NG_012233.1:g.10977_10979del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297598.5:c.851_853del MANE Select | ENSP00000297598.4:p.Leu284del | |
| ENST00000297598.4:c.851_853del | ENSP00000297598.4:p.Leu284del | |
| ENST00000396200.3:c.926_928del | ENSP00000379503.3:p.Leu309del | |
| ENST00000517764.1:c.851_853del | ENSP00000430380.1:p.Leu284del | |
| ENST00000520728.5:c.851_853del | ENSP00000428317.1:p.Leu284del | |
| NM_001161779.1:c.926_928del | NP_001155251.1:p.Leu309del | |
| NM_001161780.1:c.926_928del | NP_001155252.1:p.Leu309del | |
| NM_001161781.1:c.851_853del | NP_001155253.1:p.Leu284del | |
| NM_018444.3:c.851_853del | NP_060914.2:p.Leu284del | |
| XM_011517135.1:c.905_907del | XP_011515437.1:p.Leu302del | |
| XM_011517136.1:c.851_853del | XP_011515438.1:p.Leu284del | |
| XM_011517137.1:c.851_853del | XP_011515439.1:p.Leu284del | |
| XM_011517135.2:c.905_907del | XP_011515437.1:p.Leu302del | |
| XM_011517136.2:c.851_853del | XP_011515438.1:p.Leu284del | |
| XM_017013588.1:c.1013_1015del | XP_016869077.1:p.Leu338del | |
| NM_018444.4:c.851_853del MANE Select | NP_060914.2:p.Leu284del | |
| NM_001161780.2:c.926_928del | NP_001155252.1:p.Leu309del | |
| NM_001161781.2:c.851_853del | NP_001155253.1:p.Leu284del | |
| NM_001161779.2:c.926_928del | NP_001155251.1:p.Leu309del |