Linked Data
ClinVar Variation Id:
2189773
ClinVar RCV Id:
RCV002611809
dbSNP Id:
rs763861580
gnomAD v2:
11-57367553-GAACCCACCACAC-G
gnomAD v3:
11-57600080-GAACCCACCACAC-G
gnomAD v4:
11-57600080-GAACCCACCACAC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.57600092_57600103del , CM000673.2:g.57600092_57600103del | GRCh38 |
| NC_000011.9:g.57367565_57367576del , CM000673.1:g.57367565_57367576del | GRCh37 |
| NC_000011.8:g.57124141_57124152del | NCBI36 |
| NG_009625.1:g.7539_7550del , LRG_105:g.7539_7550del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000278407.9:c.265_276del MANE Select | ENSP00000278407.4:p.Gln89_Thr92del | |
| ENST00000528996.2:c.58+1764_58+1775del | ENSP00000431226.2:n.58+1764_58+1775del | |
| ENST00000531605.2:c.51+1771_51+1782del | ENSP00000503752.1:n.51+1771_51+1782del | |
| ENST00000619430.2:c.265_276del | ENSP00000478572.2:p.Gln89_Thr92del | |
| ENST00000676670.1:c.265_276del | ENSP00000504807.1:p.Gln89_Thr92del | |
| ENST00000676741.1:n.1347_1358del | ||
| ENST00000677275.1:n.252_263del | ||
| ENST00000677624.1:c.265_276del | ENSP00000503979.1:p.Gln89_Thr92del | |
| ENST00000677625.1:c.265_276del | ENSP00000502857.1:p.Gln89_Thr92del | |
| ENST00000677856.1:n.324_335del | ||
| ENST00000677915.1:c.265_276del | ENSP00000503118.1:p.Gln89_Thr92del | |
| ENST00000678533.1:c.51+1771_51+1782del | ENSP00000503873.1:n.51+1771_51+1782del | |
| ENST00000678592.1:c.265_276del | ENSP00000504424.1:p.Gln89_Thr92del | |
| ENST00000278407.8:c.265_276del | ENSP00000278407.4:p.Gln89_Thr92del | |
| ENST00000340687.10:c.265_276del | ENSP00000341861.6:p.Gln89_Thr92del | |
| ENST00000378323.8:c.280_291del | ENSP00000367574.4:p.Gln94_Thr97del | |
| ENST00000378324.6:c.109_120del | ENSP00000367575.2:p.Gln37_Thr40del | |
| ENST00000403558.1:c.367_378del | ENSP00000384420.1:p.Gln123_Thr126del | |
| ENST00000405496.5:c.265_276del | ENSP00000384561.1:p.Gln89_Thr92del | |
| ENST00000531133.5:c.51+1771_51+1782del | ENSP00000435431.1:n.51+1771_51+1782del | |
| ENST00000531797.5:c.51+1771_51+1782del | ENSP00000432554.1:n.51+1771_51+1782del | |
| ENST00000619430.1:c.265_276del | ENSP00000478572.1:p.Gln89_Thr92del | |
| NM_000062.2:c.265_276del , LRG_105t1:c.265_276del | NP_000053.2:p.Gln89_Thr92del | |
| NM_001032295.1:c.265_276del | NP_001027466.1:p.Gln89_Thr92del | |
| NM_000062.3:c.265_276del MANE Select | NP_000053.2:p.Gln89_Thr92del | |
| NM_001032295.2:c.265_276del | NP_001027466.1:p.Gln89_Thr92del |