Linked Data
gnomAD v4:
12-5045125-CGTG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.5045127_5045129del , CM000674.2:g.5045127_5045129del | GRCh38 |
| NC_000012.11:g.5154293_5154295del , CM000674.1:g.5154293_5154295del | GRCh37 |
| NC_000012.10:g.5024554_5024556del | NCBI36 |
| NG_012198.1:g.6209_6211del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252321.5:c.980_982del MANE Select | ENSP00000252321.3:p.Val327del | |
| ENST00000252321.4:c.980_982del | ENSP00000252321.3:p.Val327del | |
| NM_002234.3:c.980_982del | NP_002225.2:p.Val327del | |
| NM_002234.4:c.980_982del MANE Select | NP_002225.2:p.Val327del |