Linked Data
gnomAD v4:
12-6018591-TC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6018593del , CM000674.2:g.6018593del | GRCh38 |
| NC_000012.11:g.6127759del , CM000674.1:g.6127759del | GRCh37 |
| NC_000012.10:g.5998020del | NCBI36 |
| NG_009072.1:g.111079del | |
| NG_009072.2:g.111079del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261405.10:c.4826del MANE Select | ENSP00000261405.5:p.Gly1609GlufsTer? | |
| ENST00000261405.9:c.4826del | ENSP00000261405.5:p.Gly1609GlufsTer? | |
| ENST00000538635.5:n.421-24658del | ||
| NM_000552.3:c.4826del | NP_000543.2:p.Gly1609GlufsTer? | |
| NM_000552.4:c.4826del | NP_000543.2:p.Gly1609GlufsTer? | |
| NM_000552.5:c.4826del MANE Select | NP_000543.3:p.Gly1609GlufsTer? |