Linked Data
ClinVar Variation Id:
925597
dbSNP Id:
rs2071666850
gnomAD v3:
12-110913289-TGAATGCGTTGA-T
gnomAD v4:
12-110913289-TGAATGCGTTGA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.110913295_110913305del , CM000674.2:g.110913295_110913305del | GRCh38 |
| NC_000012.11:g.111351099_111351109del , CM000674.1:g.111351099_111351109del | GRCh37 |
| NC_000012.10:g.109835482_109835492del | NCBI36 |
| NG_007554.1:g.12278_12288del , LRG_393:g.12278_12288del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000228841.15:c.299_309del MANE Select | ENSP00000228841.8:p.Leu100GlnfsTer4 | |
| ENST00000663220.1:c.242_252del | ENSP00000499568.1:p.Leu81GlnfsTer4 | |
| ENST00000228841.12:c.299_309del | ENSP00000228841.7:p.Leu100GlnfsTer4 | |
| ENST00000548438.1:c.257_267del | ENSP00000447154.1:p.Leu86GlnfsTer4 | |
| ENST00000549029.1:n.130_140del | ||
| NM_000432.3:c.299_309del , LRG_393t1:c.299_309del | NP_000423.2:p.Leu100GlnfsTer4 | |
| NM_000432.4:c.299_309del MANE Select | NP_000423.2:p.Leu100GlnfsTer4 |