Linked Data
ClinVar Variation Id:
2967695
ClinVar RCV Id:
RCV003826357
dbSNP Id:
rs771718064
ExAC:
8:134107378 ATG / A
gnomAD v2:
8-134107378-ATG-A
gnomAD v4:
8-133095134-ATG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.133095136_133095137del , CM000670.2:g.133095136_133095137del | GRCh38 |
| NC_000008.10:g.134107380_134107381del , CM000670.1:g.134107380_134107381del | GRCh37 |
| NC_000008.9:g.134176562_134176563del | NCBI36 |
| NG_015832.1:g.233176_233177del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000220616.9:c.7332_7333del (TG) MANE Select | ENSP00000220616.4:p.Met2444IlefsTer20 | |
| ENST00000338087.10:c.-319+7417_-319+7418del (SLA) MANE Select | ENSP00000337548.5:n.-319+7417_-319+7418del | |
| ENST00000220616.8:c.7332_7333del (TG) | ENSP00000220616.4:p.Met2444IlefsTer20 | |
| ENST00000338087.9:c.-319+7417_-319+7418del (SLA) | ENSP00000337548.5:n.-319+7417_-319+7418del | |
| ENST00000395352.7:c.11+7417_11+7418del (SLA) | ENSP00000378759.3:n.11+7417_11+7418del | |
| ENST00000517648.5:c.11+7417_11+7418del (SLA) | ENSP00000428559.1:n.11+7417_11+7418del | |
| ENST00000517932.1:n.61-5021_61-5020del (SLA) | ||
| ENST00000518565.5:n.324+7417_324+7418del (SLA) | ||
| ENST00000519178.5:c.2698_2699del (TG) | ||
| ENST00000519341.5:c.-441-7296_-441-7295del (SLA) | ENSP00000429681.1:n.-441-7296_-441-7295del | |
| ENST00000519543.5:c.1731_1732del (TG) | ENSP00000430430.1:p.Met577IlefsTer20 | |
| ENST00000519558.5:c.-468+7417_-468+7418del (SLA) | ENSP00000429143.1:n.-468+7417_-468+7418del | |
| ENST00000519747.5:c.-419+7417_-419+7418del (SLA) | ENSP00000428971.1:n.-419+7417_-419+7418del | |
| ENST00000521302.5:c.-388+7417_-388+7418del (SLA) | ENSP00000430184.1:n.-388+7417_-388+7418del | |
| ENST00000521823.5:n.76+7417_76+7418del (SLA) | ||
| ENST00000522119.5:c.-41+7264_-41+7265del (SLA) | ENSP00000430596.1:n.-41+7264_-41+7265del | |
| ENST00000522946.5:n.143+7264_143+7265del (SLA) | ||
| ENST00000522996.5:n.514_515del (TG) | ||
| ENST00000523610.5:c.-319+7264_-319+7265del (SLA) | ENSP00000428087.1:n.-319+7264_-319+7265del | |
| ENST00000523756.5:c.3987_3988del (TG) | ||
| ENST00000524345.5:c.-264+7417_-264+7418del (SLA) | ENSP00000427928.1:n.-264+7417_-264+7418del | |
| NM_001045556.2:c.-319+7417_-319+7418del (SLA) | NP_001039021.1:n.-319+7417_-319+7418del | |
| NM_001045557.2:c.11+7417_11+7418del (SLA) | NP_001039022.2:n.11+7417_11+7418del | |
| NM_001282964.1:c.11+7417_11+7418del (SLA) | NP_001269893.1:n.11+7417_11+7418del | |
| NM_001282965.1:c.-264+7417_-264+7418del (SLA) | NP_001269894.1:n.-264+7417_-264+7418del | |
| NM_003235.4:c.7332_7333del (TG) | NP_003226.4:p.Met2444IlefsTer20 | |
| XM_005251038.3:c.7140_7141del (TG) | XP_005251095.1:p.Met2380IlefsTer20 | |
| XM_006716622.2:c.7269_7270del (TG) | XP_006716685.1:p.Met2423IlefsTer20 | |
| XM_005251038.4:c.7140_7141del (TG) | XP_005251095.1:p.Met2380IlefsTer20 | |
| XM_006716622.3:c.7269_7270del (TG) | XP_006716685.1:p.Met2423IlefsTer20 | |
| XM_017013739.2:c.-542+7417_-542+7418del (SLA) | XP_016869228.1:n.-542+7417_-542+7418del | |
| XM_017013793.1:c.7266_7267del (TG) | XP_016869282.1:p.Met2422IlefsTer20 | |
| XM_017013794.1:c.7332_7333del (TG) | XP_016869283.1:p.Met2444IlefsTer20 | |
| XM_017013795.1:c.7161_7162del (TG) | XP_016869284.1:p.Met2387IlefsTer20 | |
| XM_017013796.1:c.7113_7114del (TG) | XP_016869285.1:p.Met2371IlefsTer20 | |
| XM_017013797.1:c.7071_7072del (TG) | XP_016869286.1:p.Met2357IlefsTer20 | |
| NM_001045556.3:c.-319+7417_-319+7418del (SLA) MANE Select | NP_001039021.1:n.-319+7417_-319+7418del | |
| NM_003235.5:c.7332_7333del (TG) MANE Select | NP_003226.4:p.Met2444IlefsTer20 | |
| NM_001045557.3:c.11+7417_11+7418del (SLA) | NP_001039022.2:n.11+7417_11+7418del | |
| NM_001282964.2:c.11+7417_11+7418del (SLA) | NP_001269893.1:n.11+7417_11+7418del | |
| NM_001282965.2:c.-264+7417_-264+7418del (SLA) | NP_001269894.1:n.-264+7417_-264+7418del |