Linked Data
gnomAD v4:
6-53506911-AC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.53506913del , CM000668.2:g.53506913del | GRCh38 |
| NC_000006.11:g.53371711del , CM000668.1:g.53371711del | GRCh37 |
| NC_000006.10:g.53479670del | NCBI36 |
| NG_012071.1:g.43122del | |
| NG_012071.2:g.43218del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000513939.6:c.1083+1del | ||
| ENST00000616923.5:c.1038+1del | ||
| ENST00000643939.1:c.1203+1del | ||
| ENST00000650454.1:c.1197+1del | ||
| ENST00000229416.10:c.1197+1del | ||
| ENST00000504353.1:n.166+1del | ||
| ENST00000509541.5:n.1642+1del | ||
| ENST00000616923.4:c.1083+1del | ||
| NM_001197115.1:c.1083+1del | ||
| NM_001498.3:c.1197+1del | ||
| NM_001498.4:c.1197+1del | ||
| XM_017010749.1:c.486+1del | ||
| NM_001197115.2:c.1083+1del |