Linked Data
dbSNP Id:
rs1199012546
gnomAD v3:
12-52651990-CCCGCCACCA-C
gnomAD v4:
12-52651990-CCCGCCACCA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52651993_52652001del , CM000674.2:g.52651993_52652001del | GRCh38 |
| NC_000012.11:g.53045777_53045785del , CM000674.1:g.53045777_53045785del | GRCh37 |
| NC_000012.10:g.51332044_51332052del | NCBI36 |
| NG_008296.1:g.5177_5185del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309680.4:c.144_152del MANE Select | ENSP00000310861.3:p.Gly49_Gly51del | |
| ENST00000309680.3:c.144_152del | ENSP00000310861.3:p.Gly49_Gly51del | |
| NM_000423.2:c.144_152del | NP_000414.2:p.Gly49_Gly51del | |
| NM_000423.3:c.144_152del MANE Select | NP_000414.2:p.Gly49_Gly51del |