Linked Data
gnomAD v4:
6-24145917-CA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24145921del , CM000668.2:g.24145921del | GRCh38 |
| NC_000006.11:g.24146149del , CM000668.1:g.24146149del | GRCh37 |
| NC_000006.10:g.24254128del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378491.9:c.563del MANE Select | ENSP00000367752.4:p.Asn188MetfsTer19 | |
| ENST00000378478.5:c.563del | ENSP00000367739.2:p.Asn188MetfsTer19 | |
| ENST00000378491.8:c.563del | ENSP00000367752.4:p.Asn188MetfsTer19 | |
| ENST00000468195.2:n.257-8850del | ||
| NM_080723.4:c.563del | NP_542454.3:p.Asn188MetfsTer19 | |
| NM_080723.5:c.563del MANE Select | NP_542454.3:p.Asn188MetfsTer19 |