Linked Data
gnomAD v4:
12-6058107-CTAA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6058109_6058111del , CM000674.2:g.6058109_6058111del | GRCh38 |
| NC_000012.11:g.6167275_6167277del , CM000674.1:g.6167275_6167277del | GRCh37 |
| NC_000012.10:g.6037536_6037538del | NCBI36 |
| NG_009072.1:g.71561_71563del | |
| NG_009072.2:g.71561_71563del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261405.10:c.1534-66_1534-64del MANE Select | ENSP00000261405.5:n.1534-66_1534-64del | |
| ENST00000261405.9:c.1534-66_1534-64del | ENSP00000261405.5:n.1534-66_1534-64del | |
| ENST00000538635.5:n.420+52405_420+52407del | ||
| NM_000552.3:c.1534-66_1534-64del | NP_000543.2:n.1534-66_1534-64del | |
| NM_000552.4:c.1534-66_1534-64del | NP_000543.2:n.1534-66_1534-64del | |
| NM_000552.5:c.1534-66_1534-64del MANE Select | NP_000543.3:n.1534-66_1534-64del |