Linked Data
gnomAD v4:
19-7533265-CTAGGTCTG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7533271_7533278del , CM000681.2:g.7533271_7533278del | GRCh38 |
| NC_000019.9:g.7598157_7598164del , CM000681.1:g.7598157_7598164del | GRCh37 |
| NC_000019.8:g.7504157_7504164del | NCBI36 |
| NG_013374.1:g.4120_4127del | |
| NG_015806.1:g.15662_15669del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.1576-252_1576-245del MANE Select | ENSP00000264079.5:n.1576-252_1576-245del | |
| ENST00000264079.10:c.1576-252_1576-245del | ENSP00000264079.5:n.1576-252_1576-245del | |
| ENST00000394321.9:n.1891-252_1891-245del | ||
| ENST00000599334.1:c.304-252_304-245del | ||
| NM_020533.2:c.1576-252_1576-245del | NP_065394.1:n.1576-252_1576-245del | |
| NM_020533.3:c.1576-252_1576-245del MANE Select | NP_065394.1:n.1576-252_1576-245del |