Linked Data
gnomAD v4:
6-24145487-TCAGGGGCGA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24145488_24145496del , CM000668.2:g.24145488_24145496del | GRCh38 |
| NC_000006.11:g.24145716_24145724del , CM000668.1:g.24145716_24145724del | GRCh37 |
| NC_000006.10:g.24253695_24253703del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378491.9:c.190-60_190-52del MANE Select | ENSP00000367752.4:n.190-60_190-52del | |
| ENST00000378477.2:c.190-60_190-52del | ENSP00000367738.2:n.190-60_190-52del | |
| ENST00000378478.5:c.190-60_190-52del | ENSP00000367739.2:n.190-60_190-52del | |
| ENST00000378491.8:c.190-60_190-52del | ENSP00000367752.4:n.190-60_190-52del | |
| ENST00000468195.2:n.257-9283_257-9275del | ||
| NM_080723.4:c.190-60_190-52del | NP_542454.3:n.190-60_190-52del | |
| NM_080723.5:c.190-60_190-52del MANE Select | NP_542454.3:n.190-60_190-52del |