Linked Data
ClinVar Variation Id:
3073631
ClinVar RCV Id:
RCV004016637
dbSNP Id:
rs1200388118
gnomAD v2:
10-88635760-AC-A
gnomAD v4:
10-86876003-AC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.86876004del , CM000672.2:g.86876004del | GRCh38 |
| NC_000010.10:g.88635761del , CM000672.1:g.88635761del | GRCh37 |
| NC_000010.9:g.88625741del | NCBI36 |
| NG_009362.1:g.124366del , LRG_298:g.124366del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000480152.3:c.-15del | ENSP00000483569.2:n.-15del | |
| ENST00000635816.2:c.-15del | ENSP00000489707.1:n.-15del | |
| ENST00000636056.2:c.-15del | ENSP00000490273.1:n.-15del | |
| ENST00000372037.8:c.-15del MANE Select | ENSP00000361107.2:n.-15del | |
| ENST00000635816.1:c.-15del | ENSP00000489707.1:n.-15del | |
| ENST00000636056.1:c.-15del | ENSP00000490273.1:n.-15del | |
| ENST00000638429.1:c.-15del | ENSP00000492290.1:n.-15del | |
| ENST00000372037.7:c.-15del | ENSP00000361107.1:n.-15del | |
| ENST00000480152.2:c.-15del | ENSP00000483569.1:n.-15del | |
| NM_004329.2:c.-15del , LRG_298t1:c.-15del | NP_004320.2:n.-15del | |
| XM_011540103.1:c.-15del | XP_011538405.1:n.-15del | |
| XM_011540104.1:c.-15del | XP_011538406.1:n.-15del | |
| XM_011540103.2:c.-15del | XP_011538405.1:n.-15del | |
| XM_011540104.2:c.-15del | XP_011538406.1:n.-15del | |
| NM_004329.3:c.-15del MANE Select | NP_004320.2:n.-15del |