Linked Data
ClinVar Variation Id:
307941
ClinVar RCV Id:
RCV000261941
dbSNP Id:
rs150936610
ExAC:
12:21349862 TATAA / T
gnomAD v2:
12-21349862-TATAA-T
gnomAD v3:
12-21196928-TATAA-T
gnomAD v4:
12-21196928-TATAA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21196929_21196932del , CM000674.2:g.21196929_21196932del | GRCh38 |
| NC_000012.11:g.21349863_21349866del , CM000674.1:g.21349863_21349866del | GRCh37 |
| NC_000012.10:g.21241130_21241133del | NCBI36 |
| NG_011745.1:g.70736_70739del , LRG_1022:g.70736_70739del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256958.3:c.728-17_728-14del MANE Select | ENSP00000256958.2:n.728-17_728-14del | |
| ENST00000256958.2:c.728-17_728-14del | ENSP00000256958.2:n.728-17_728-14del | |
| NM_006446.4:c.728-17_728-14del , LRG_1022t1:c.728-17_728-14del | NP_006437.3:n.728-17_728-14del | |
| NM_006446.5:c.728-17_728-14del MANE Select | NP_006437.3:n.728-17_728-14del |