Linked Data
ClinVar Variation Id:
226980
dbSNP Id:
rs876657423
gnomAD v2:
12-133198463-ATCTCTGCCCCT-A
gnomAD v3:
12-132621877-ATCTCTGCCCCT-A
gnomAD v4:
12-132621877-ATCTCTGCCCCT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.132621881_132621891del , CM000674.2:g.132621881_132621891del | GRCh38 |
| NC_000012.11:g.133198467_133198477del , CM000674.1:g.133198467_133198477del | GRCh37 |
| NC_000012.10:g.131708540_131708550del | NCBI36 |
| NG_033840.1:g.70637_70647del , LRG_789:g.70637_70647del | |
| NG_033909.1:g.8102_8112del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643471.2:c.1325_1335del MANE Select | ENSP00000494644.1:p.Ser442Ter | |
| ENST00000343948.8:c.1403_1413del | ENSP00000343339.4:p.Ser468Ter | |
| ENST00000348800.9:c.1141-17_1141-7del | ENSP00000345095.5:n.1141-17_1141-7del | |
| ENST00000350048.9:c.1253_1263del | ENSP00000343904.5:p.Ser418Ter | |
| ENST00000351222.8:c.1049_1059del | ENSP00000344502.4:p.Ser350Ter | |
| ENST00000352418.8:c.1109_1119del | ENSP00000341419.4:p.Ser370Ter | |
| ENST00000389110.7:c.1325_1335del | ENSP00000373762.3:p.Ser442Ter | |
| ENST00000449132.6:c.1039-17_1039-7del | ENSP00000405531.2:n.1039-17_1039-7del | |
| ENST00000542301.2:c.1422_1432del | ENSP00000444477.2:n.1422_1432del | |
| NM_001282164.1:c.1039-17_1039-7del | NP_001269093.1:n.1039-17_1039-7del | |
| NM_001282165.1:c.*372_*382del | NP_001269094.1:n.*372_*382del | |
| NM_012226.4:c.1109_1119del | NP_036358.2:p.Ser370Ter | |
| NM_016318.3:c.1253_1263del | NP_057402.1:p.Ser418Ter | |
| NM_170682.3:c.1325_1335del | NP_733782.1:p.Ser442Ter | |
| NM_170683.3:c.1403_1413del | NP_733783.1:p.Ser468Ter | |
| NM_174872.2:c.1049_1059del | NP_777361.1:p.Ser350Ter | |
| NM_174873.2:c.1141-17_1141-7del | NP_777362.1:n.1141-17_1141-7del | |
| XM_005266154.2:c.1448_1458del | XP_005266211.1:p.Ser483Ter | |
| XM_005266155.3:c.1219-119_1219-109del | XP_005266212.1:n.1219-119_1219-109del | |
| XM_005266156.3:c.1219-17_1219-7del | XP_005266213.1:n.1219-17_1219-7del | |
| XM_011534786.1:c.1331_1341del | XP_011533088.1:p.Ser444Ter | |
| XM_005266154.4:c.1448_1458del | XP_005266211.1:p.Ser483Ter | |
| XM_005266155.5:c.1219-119_1219-109del | XP_005266212.1:n.1219-119_1219-109del | |
| XM_005266156.5:c.1219-17_1219-7del | XP_005266213.1:n.1219-17_1219-7del | |
| XM_011534786.3:c.1331_1341del | XP_011533088.1:p.Ser444Ter | |
| XM_017019035.2:c.1141-119_1141-109del | XP_016874524.1:n.1141-119_1141-109del | |
| NM_001282164.2:c.1039-17_1039-7del | NP_001269093.1:n.1039-17_1039-7del | |
| NM_001282165.2:c.*372_*382del | NP_001269094.1:n.*372_*382del | |
| NM_012226.5:c.1109_1119del | NP_036358.2:p.Ser370Ter | |
| NM_016318.4:c.1253_1263del | NP_057402.1:p.Ser418Ter | |
| NM_170682.4:c.1325_1335del MANE Select | NP_733782.1:p.Ser442Ter | |
| NM_170683.4:c.1403_1413del | NP_733783.1:p.Ser468Ter | |
| NM_174872.3:c.1049_1059del | NP_777361.1:p.Ser350Ter | |
| NM_174873.3:c.1141-17_1141-7del | NP_777362.1:n.1141-17_1141-7del |