Linked Data
ClinVar Variation Id:
376902
dbSNP Id:
rs1057520085
gnomAD v2:
11-61160687-TGTGCTCCTTTTTCAG-T
gnomAD v3:
11-61393215-TGTGCTCCTTTTTCAG-T
gnomAD v4:
11-61393215-TGTGCTCCTTTTTCAG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61393218_61393232del , CM000673.2:g.61393218_61393232del | GRCh38 |
| NC_000011.9:g.61160690_61160704del , CM000673.1:g.61160690_61160704del | GRCh37 |
| NC_000011.8:g.60917266_60917280del | NCBI36 |
| NG_032976.1:g.5859_5873del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000334888.10:c.35-13_36del | ||
| ENST00000544795.6:n.312-13_313del | ||
| ENST00000684926.1:n.51-13_52del | ||
| ENST00000688959.1:c.-225-13_-224del | ||
| ENST00000690736.1:c.35-13_36del | ||
| ENST00000515837.7:c.35-13_36del | ||
| ENST00000334888.9:c.35-13_36del | ||
| ENST00000398979.7:c.-149-13_-148del | ||
| ENST00000515837.6:c.35-13_36del | ||
| ENST00000541473.1:n.49-13_50del | ||
| ENST00000544795.5:n.51-13_52del | ||
| NM_001173990.2:c.35-13_36del | ||
| NM_001173991.2:c.35-13_36del | ||
| NM_016499.5:c.-149-13_-148del | ||
| XM_005274039.3:c.-149-13_-148del | ||
| NM_001330285.1:c.-149-13_-148del | ||
| XM_005274039.4:c.-149-13_-148del | ||
| NM_001173990.3:c.35-13_36del | ||
| NM_001173991.3:c.35-13_36del | ||
| NM_001330285.2:c.-149-13_-148del | ||
| NM_016499.6:c.-149-13_-148del |