Linked Data
gnomAD v4:
10-80273565-CCATGCCCATCCTT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.80273566_80273578del , CM000672.2:g.80273566_80273578del | GRCh38 |
| NC_000010.10:g.82033322_82033334del , CM000672.1:g.82033322_82033334del | GRCh37 |
| NC_000010.9:g.82023302_82023314del | NCBI36 |
| NG_008083.1:g.21101_21113del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372213.8:c.*203_*215del MANE Select | ENSP00000361287.3:n.*203_*215del | |
| ENST00000372213.7:c.*203_*215del | ENSP00000361287.3:n.*203_*215del | |
| ENST00000480845.1:n.620+3_620+15del | ||
| ENST00000485270.5:n.903_915del | ||
| NM_000429.2:c.*203_*215del | NP_000420.1:n.*203_*215del | |
| XM_005269842.3:c.*203_*215del | XP_005269899.1:n.*203_*215del | |
| XM_005269843.3:c.*203_*215del | XP_005269900.1:n.*203_*215del | |
| NM_000429.3:c.*203_*215del MANE Select | NP_000420.1:n.*203_*215del |