Linked Data
ClinVar Variation Id:
418218
dbSNP Id:
rs1064793129
gnomAD v4:
17-28534758-TCCTGGGCTGTCCGCCC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.28534772_28534787del , CM000679.2:g.28534772_28534787del | GRCh38 |
| NC_000017.10:g.26861790_26861805del , CM000679.1:g.26861790_26861805del | GRCh37 |
| NC_000017.9:g.23885917_23885932del | NCBI36 |
| NG_007260.1:g.15832_15847del , LRG_61:g.15832_15847del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000577936.2:c.1201_1216del | ENSP00000462159.2:p.Pro401AlafsTer? | |
| ENST00000579795.6:c.1201_1216del MANE Select | ENSP00000464645.1:p.Pro401AlafsTer? | |
| ENST00000226247.2:c.1201_1216del | ENSP00000226247.2:p.Pro401AlafsTer? | |
| ENST00000481916.6:c.*1195+69277_*1195+69292del | ENSP00000436369.2:n.*1195+69277_*1195+692... | |
| ENST00000579795.5:c.1201_1216del | ENSP00000464645.1:p.Pro401AlafsTer? | |
| NM_003593.2:c.1201_1216del , LRG_61t1:c.1201_1216del | NP_003584.2:p.Pro401AlafsTer? | |
| XM_005258046.3:c.1201_1216del | XP_005258103.1:p.Pro401AlafsTer? | |
| XM_011525354.1:c.1258_1273del | XP_011523656.1:p.Pro420AlafsTer? | |
| XM_011525355.1:c.1255_1270del | XP_011523657.1:p.Pro419AlafsTer? | |
| XM_011525356.1:c.1255_1270del | XP_011523658.1:p.Pro419AlafsTer? | |
| XM_011525357.1:c.1237_1252del | XP_011523659.1:p.Pro413AlafsTer? | |
| XM_011525358.1:c.1204_1219del | XP_011523660.1:p.Pro402AlafsTer? | |
| XM_011525359.1:c.1204_1219del | XP_011523661.1:p.Pro402AlafsTer? | |
| XM_011525360.1:c.1204_1219del | XP_011523662.1:p.Pro402AlafsTer? | |
| XM_011525361.1:c.1201_1216del | XP_011523663.1:p.Pro401AlafsTer? | |
| XM_011525362.1:c.1201_1216del | XP_011523664.1:p.Pro401AlafsTer? | |
| XM_011525363.1:c.1193-181_1193-166del | XP_011523665.1:n.1193-181_1193-166del | |
| XM_011525364.1:c.736_751del | XP_011523666.1:p.Pro246AlafsTer? | |
| XM_011525365.1:c.1192+234_1192+249del | XP_011523667.1:n.1192+234_1192+249del | |
| XM_011525366.1:c.658_673del | XP_011523668.1:p.Pro220AlafsTer? | |
| XM_011525367.1:c.643_658del | XP_011523669.1:p.Pro215AlafsTer? | |
| XM_011525368.1:c.565_580del | XP_011523670.1:p.Pro189AlafsTer? | |
| XM_011525369.1:c.565_580del | XP_011523671.1:p.Pro189AlafsTer? | |
| XM_011525370.1:c.565_580del | XP_011523672.1:p.Pro189AlafsTer? | |
| XM_011525368.2:c.565_580del | XP_011523670.1:p.Pro189AlafsTer? | |
| XM_011525369.2:c.565_580del | XP_011523671.1:p.Pro189AlafsTer? | |
| XM_011525370.2:c.565_580del | XP_011523672.1:p.Pro189AlafsTer? | |
| XM_017025228.1:c.1201_1216del | XP_016880717.1:p.Pro401AlafsTer? | |
| XM_017025229.1:c.1139-181_1139-166del | XP_016880718.1:n.1139-181_1139-166del | |
| XM_017025230.1:c.1138+234_1138+249del | XP_016880719.1:n.1138+234_1138+249del | |
| XM_017025231.1:c.1139-222_1139-207del | XP_016880720.1:n.1139-222_1139-207del | |
| NM_001369369.1:c.1201_1216del MANE Select | NP_001356298.1:p.Pro401AlafsTer? | |
| NM_003593.3:c.1201_1216del | NP_003584.2:p.Pro401AlafsTer? |