Linked Data
dbSNP Id:
rs748682297
ExAC:
10:88635753 AC / A
gnomAD v2:
10-88635753-AC-A
gnomAD v4:
10-86875996-AC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.86875997del , CM000672.2:g.86875997del | GRCh38 |
| NC_000010.10:g.88635754del , CM000672.1:g.88635754del | GRCh37 |
| NC_000010.9:g.88625734del | NCBI36 |
| NG_009362.1:g.124359del , LRG_298:g.124359del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000480152.3:c.-22del | ENSP00000483569.2:n.-22del | |
| ENST00000635816.2:c.-22del | ENSP00000489707.1:n.-22del | |
| ENST00000636056.2:c.-22del | ENSP00000490273.1:n.-22del | |
| ENST00000372037.8:c.-22del MANE Select | ENSP00000361107.2:n.-22del | |
| ENST00000635816.1:c.-22del | ENSP00000489707.1:n.-22del | |
| ENST00000636056.1:c.-22del | ENSP00000490273.1:n.-22del | |
| ENST00000638429.1:c.-22del | ENSP00000492290.1:n.-22del | |
| ENST00000372037.7:c.-22del | ENSP00000361107.1:n.-22del | |
| ENST00000480152.2:c.-22del | ENSP00000483569.1:n.-22del | |
| NM_004329.2:c.-22del , LRG_298t1:c.-22del | NP_004320.2:n.-22del | |
| XM_011540103.1:c.-22del | XP_011538405.1:n.-22del | |
| XM_011540104.1:c.-22del | XP_011538406.1:n.-22del | |
| XM_011540103.2:c.-22del | XP_011538405.1:n.-22del | |
| XM_011540104.2:c.-22del | XP_011538406.1:n.-22del | |
| NM_004329.3:c.-22del MANE Select | NP_004320.2:n.-22del |