Linked Data
ClinVar Variation Id:
21539
dbSNP Id:
rs113993994
gnomAD v2:
7-66458362-GTCTT-G
gnomAD v3:
7-66993375-GTCTT-G
gnomAD v4:
7-66993375-GTCTT-G
PubMed:
PMID:20301722
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.66993381_66993384del , CM000669.2:g.66993381_66993384del | GRCh38 |
| NC_000007.13:g.66458368_66458371del , CM000669.1:g.66458368_66458371del | GRCh37 |
| NC_000007.12:g.66095803_66095806del | NCBI36 |
| NG_007277.1:g.7223_7226del , LRG_104:g.7223_7226del | |
| NG_033069.1:g.1577_1580del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000414306.6:c.*28_*31del | ENSP00000394586.1:n.*28_*31del | |
| ENST00000697860.1:n.264_267del | ||
| ENST00000697861.1:c.258+833_258+836del | ENSP00000513460.1:n.258+833_258+836del | |
| ENST00000697862.1:c.297_300del | ENSP00000513461.1:p.Glu99AspfsTer21 | |
| ENST00000697863.1:c.240_243del | ENSP00000513462.1:p.Glu80AspfsTer21 | |
| ENST00000697864.1:n.1441_1444del | ||
| ENST00000697865.1:c.240_243del | ENSP00000513463.1:p.Glu80AspfsTer21 | |
| ENST00000697866.1:c.-22_-19del | ENSP00000513464.1:n.-22_-19del | |
| ENST00000697867.1:c.137_140del | ||
| ENST00000697868.1:c.*61_*64del | ENSP00000513466.1:n.*61_*64del | |
| ENST00000697869.1:c.*32_*35del | ENSP00000513467.1:n.*32_*35del | |
| ENST00000697897.1:c.297_300del | ENSP00000513469.1:p.Glu99AspfsTer21 | |
| ENST00000246868.7:c.297_300del MANE Select | ENSP00000246868.2:p.Glu99AspfsTer21 | |
| ENST00000246868.6:c.297_300del | ENSP00000246868.2:p.Glu99AspfsTer21 | |
| ENST00000414306.5:c.*28_*31del | ENSP00000394586.1:n.*28_*31del | |
| ENST00000463579.1:n.186_189del | ||
| ENST00000490953.5:n.438_441del | ||
| ENST00000617799.1:c.297_300del | ENSP00000483040.1:p.Glu99AspfsTer21 | |
| NM_016038.2:c.297_300del , LRG_104t1:c.297_300del | NP_057122.2:p.Glu99AspfsTer21 | |
| NM_016038.3:c.297_300del | NP_057122.2:p.Glu99AspfsTer21 | |
| NM_016038.4:c.297_300del MANE Select | NP_057122.2:p.Glu99AspfsTer21 |