Linked Data
ClinVar Variation Id:
265256
dbSNP Id:
rs113993990
gnomAD v2:
7-66460284-TC-T
gnomAD v3:
7-66995297-TC-T
gnomAD v4:
7-66995297-TC-T
PubMed:
PMID:20301722
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.66995299del , CM000669.2:g.66995299del | GRCh38 |
| NC_000007.13:g.66460286del , CM000669.1:g.66460286del | GRCh37 |
| NC_000007.12:g.66097721del | NCBI36 |
| NG_007277.1:g.5304del , LRG_104:g.5304del | |
| NG_033069.1:g.3495del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000414306.6:c.120del (SBDS) | ENSP00000394586.1:p.Ser41AlafsTer18 | |
| ENST00000697861.1:c.120del (SBDS) | ENSP00000513460.1:p.Ser41AlafsTer18 | |
| ENST00000697862.1:c.120del (SBDS) | ENSP00000513461.1:p.Ser41AlafsTer18 | |
| ENST00000697863.1:c.63del (SBDS) | ENSP00000513462.1:p.Ser22AlafsTer18 | |
| ENST00000697864.1:n.316del (SBDS) | ||
| ENST00000697865.1:c.63del (SBDS) | ENSP00000513463.1:p.Ser22AlafsTer18 | |
| ENST00000697866.1:c.-391del (SBDS) | ENSP00000513464.1:n.-391del | |
| ENST00000697868.1:c.120del (SBDS) | ENSP00000513466.1:p.Ser41AlafsTer? | |
| ENST00000697869.1:c.120del (SBDS) | ENSP00000513467.1:p.Ser41AlafsTer17 | |
| ENST00000697897.1:c.120del (SBDS) | ENSP00000513469.1:p.Ser41AlafsTer18 | |
| ENST00000246868.7:c.120del (SBDS) MANE Select | ENSP00000246868.2:p.Ser41AlafsTer18 | |
| ENST00000246868.6:c.120del (SBDS) | ENSP00000246868.2:p.Ser41AlafsTer18 | |
| ENST00000414306.5:c.120del (SBDS) | ENSP00000394586.1:p.Ser41AlafsTer18 | |
| ENST00000490953.5:n.269del (SBDS) | ||
| ENST00000491969.5:n.127del (TYW1) | ||
| ENST00000617799.1:c.120del (SBDS) | ENSP00000483040.1:p.Ser41AlafsTer18 | |
| NM_016038.2:c.120del , LRG_104t1:c.120del (SBDS) | NP_057122.2:p.Ser41AlafsTer18 | |
| NM_016038.3:c.120del (SBDS) | NP_057122.2:p.Ser41AlafsTer18 | |
| NM_016038.4:c.120del (SBDS) MANE Select | NP_057122.2:p.Ser41AlafsTer18 |