Linked Data
ClinVar Variation Id:
1576937
ClinVar RCV Id:
RCV002078621
dbSNP Id:
rs750461383
ExAC:
11:112099310 TG / T
gnomAD v2:
11-112099310-TG-T
gnomAD v3:
11-112228587-TG-T
gnomAD v4:
11-112228587-TG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.112228589del , CM000673.2:g.112228589del | GRCh38 |
| NC_000011.9:g.112099312del , CM000673.1:g.112099312del | GRCh37 |
| NC_000011.8:g.111604522del | NCBI36 |
| NG_008743.1:g.7225del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000280362.8:c.84-5del MANE Select | ENSP00000280362.3:n.84-5del | |
| ENST00000280362.7:c.84-5del | ENSP00000280362.3:n.84-5del | |
| ENST00000524931.1:c.-121-5del | ENSP00000434688.1:n.-121-5del | |
| ENST00000525645.1:n.159-5del | ||
| ENST00000525803.1:c.84-5del | ENSP00000431750.1:n.84-5del | |
| ENST00000528679.5:c.84-5del | ENSP00000435895.1:n.84-5del | |
| ENST00000531673.5:c.84-5del | ENSP00000433469.1:n.84-5del | |
| NM_000317.2:c.84-5del | NP_000308.1:n.84-5del | |
| NM_000317.3:c.84-5del MANE Select | NP_000308.1:n.84-5del |