Linked Data
dbSNP Id:
rs1308533699
gnomAD v2:
10-98639953-TAC-T
gnomAD v3:
10-96880196-TAC-T
gnomAD v4:
10-96880196-TAC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.96880201_96880202del , CM000672.2:g.96880201_96880202del | GRCh38 |
| NC_000010.10:g.98639958_98639959del , CM000672.1:g.98639958_98639959del | GRCh37 |
| NC_000010.9:g.98629948_98629949del | NCBI36 |
| NG_051561.2:g.52942_52943del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371103.8:c.-329-27064_-329-27063del | ENSP00000360144.3:n.-329-27064_-329-27063del | |
| ENST00000421806.4:c.-329-27064_-329-27063del MANE Select | ENSP00000490116.2:n.-329-27064_-329-27063del | |
| ENST00000540664.6:c.-329-27064_-329-27063del | ENSP00000443431.1:n.-329-27064_-329-27063del | |
| ENST00000674725.1:c.152-27064_152-27063del | ENSP00000502416.1:n.152-27064_152-27063del | |
| ENST00000674796.1:c.74-27064_74-27063del | ENSP00000502397.1:n.74-27064_74-27063del | |
| ENST00000675117.1:c.74-27064_74-27063del | ENSP00000502330.1:n.74-27064_74-27063del | |
| ENST00000675125.1:c.82-27064_82-27063del | ENSP00000502111.1:n.82-27064_82-27063del | |
| ENST00000675151.1:c.*36-27064_*36-27063del | ENSP00000502263.1:n.*36-27064_*36-27063del | |
| ENST00000675251.1:c.47-4202_47-4201del | ENSP00000501787.1:n.47-4202_47-4201del | |
| ENST00000675471.1:c.-340-27064_-340-27063del | ENSP00000502633.1:n.-340-27064_-340-27063del | |
| ENST00000675537.1:c.-329-27064_-329-27063del | ENSP00000501560.1:n.-329-27064_-329-27063del | |
| ENST00000675687.1:c.-329-27064_-329-27063del | ENSP00000502138.1:n.-329-27064_-329-27063del | |
| ENST00000675902.1:c.156-27064_156-27063del | ENSP00000502127.1:n.156-27064_156-27063del | |
| ENST00000675915.1:c.264+21785_264+21786del | ||
| ENST00000675971.1:c.-329-27064_-329-27063del | ENSP00000501639.1:n.-329-27064_-329-27063del | |
| ENST00000676067.1:c.*36-27064_*36-27063del | ENSP00000502465.1:n.*36-27064_*36-27063del | |
| ENST00000676123.1:c.98-27064_98-27063del | ENSP00000501887.1:n.98-27064_98-27063del | |
| ENST00000676187.1:c.47-27064_47-27063del | ENSP00000502316.1:n.47-27064_47-27063del | |
| ENST00000676257.1:c.94-27064_94-27063del | ENSP00000501998.1:n.94-27064_94-27063del | |
| ENST00000676314.1:c.199+21785_199+21786del | ||
| ENST00000676373.1:n.152-27064_152-27063del | ||
| ENST00000676381.1:c.233-27064_233-27063del | ENSP00000501937.1:n.233-27064_233-27063del | |
| ENST00000676414.1:c.-329-27064_-329-27063del | ENSP00000502500.1:n.-329-27064_-329-27063del | |
| ENST00000356016.7:c.-329-27064_-329-27063del | ENSP00000348298.2:n.-329-27064_-329-27063del | |
| ENST00000371097.8:c.-329-27064_-329-27063del | ENSP00000360138.3:n.-329-27064_-329-27063del | |
| ENST00000371103.7:c.-329-27064_-329-27063del | ENSP00000360144.3:n.-329-27064_-329-27063del | |
| ENST00000540664.5:c.-329-27064_-329-27063del | ENSP00000443431.1:n.-329-27064_-329-27063del | |
| NM_001170765.1:c.-329-27064_-329-27063del | NP_001164236.1:n.-329-27064_-329-27063del | |
| NM_001170766.1:c.-329-27064_-329-27063del | NP_001164237.1:n.-329-27064_-329-27063del | |
| NM_032440.3:c.-329-27064_-329-27063del | NP_115816.2:n.-329-27064_-329-27063del | |
| XM_006718033.2:c.152-27064_152-27063del | XP_006718096.1:n.152-27064_152-27063del | |
| XM_006718034.2:c.-329-27064_-329-27063del | XP_006718097.1:n.-329-27064_-329-27063del | |
| XM_011540277.1:c.152-27064_152-27063del | XP_011538579.1:n.152-27064_152-27063del | |
| NM_001346516.1:c.-329-27064_-329-27063del | NP_001333445.1:n.-329-27064_-329-27063del | |
| NM_001170765.2:c.-329-27064_-329-27063del | NP_001164236.1:n.-329-27064_-329-27063del | |
| NM_001170766.2:c.-329-27064_-329-27063del | NP_001164237.1:n.-329-27064_-329-27063del | |
| NM_001346516.2:c.-329-27064_-329-27063del MANE Select | NP_001333445.1:n.-329-27064_-329-27063del | |
| NM_032440.4:c.-329-27064_-329-27063del | NP_115816.2:n.-329-27064_-329-27063del |