Linked Data
gnomAD v4:
6-49459253-AG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.49459256del , CM000668.2:g.49459256del | GRCh38 |
| NC_000006.11:g.49426969del , CM000668.1:g.49426969del | GRCh37 |
| NC_000006.10:g.49534928del | NCBI36 |
| NG_007100.1:g.8886del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274813.4:c.213del MANE Select | ENSP00000274813.3:p.Leu72CysfsTer17 | |
| ENST00000274813.3:c.213del | ENSP00000274813.3:p.Leu72CysfsTer17 | |
| NM_000255.3:c.213del | NP_000246.2:p.Leu72CysfsTer17 | |
| XM_005249143.2:c.213del | XP_005249200.1:p.Leu72CysfsTer17 | |
| XM_005249143.3:c.213del | XP_005249200.1:p.Leu72CysfsTer17 | |
| NM_000255.4:c.213del MANE Select | NP_000246.2:p.Leu72CysfsTer17 |