Linked Data
gnomAD v4:
12-12717773-CTTTGTTTTGTTCGGT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.12717782_12717796del , CM000674.2:g.12717782_12717796del | GRCh38 |
| NC_000012.11:g.12870716_12870730del , CM000674.1:g.12870716_12870730del | GRCh37 |
| NC_000012.10:g.12761983_12761997del | NCBI36 |
| NG_016341.1:g.5415_5429del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000614874.2:c.-58_-44del | ENSP00000507272.1:n.-58_-44del | |
| ENST00000682620.1:n.1631-1043_1631-1029del | ||
| ENST00000684771.1:n.585-1043_585-1029del | ||
| ENST00000228872.9:c.-58_-44del MANE Select | ENSP00000228872.4:n.-58_-44del | |
| ENST00000228872.8:c.-58_-44del | ENSP00000228872.4:n.-58_-44del | |
| ENST00000477087.1:n.155-1043_155-1029del | ||
| NM_004064.4:c.-58_-44del | NP_004055.1:n.-58_-44del | |
| NM_004064.5:c.-58_-44del MANE Select | NP_004055.1:n.-58_-44del |