Linked Data
gnomAD v4:
1-1232649-CG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1232650del , CM000663.2:g.1232650del | GRCh38 |
| NC_000001.10:g.1168030del , CM000663.1:g.1168030del | GRCh37 |
| NC_000001.9:g.1157893del | NCBI36 |
| NG_030007.1:g.4418del | |
| NG_033265.1:g.5402del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379198.5:c.372del MANE Select | ENSP00000368496.2:p.Leu125CysfsTer? | |
| ENST00000379198.3:c.372del | ENSP00000368496.2:p.Leu125CysfsTer? | |
| NM_080605.3:c.372del | NP_542172.2:p.Leu125CysfsTer? | |
| NM_080605.4:c.372del MANE Select | NP_542172.2:p.Leu125CysfsTer? |