Linked Data
dbSNP Id:
rs766955393
ExAC:
11:63988171 CAT / C
gnomAD v2:
11-63988171-CAT-C
gnomAD v3:
11-64220699-CAT-C
gnomAD v4:
11-64220699-CAT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64220701_64220702del , CM000673.2:g.64220701_64220702del | GRCh38 |
| NC_000011.9:g.63988173_63988174del , CM000673.1:g.63988173_63988174del | GRCh37 |
| NC_000011.8:g.63744749_63744750del | NCBI36 |
| NG_016360.1:g.19022_19023del , LRG_180:g.19022_19023del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000279227.10:c.1557+32_1557+33del | ENSP00000279227.5:n.1557+32_1557+33del | |
| ENST00000540554.2:n.2755_2756del | ||
| ENST00000541252.2:c.1005+32_1005+33del | ENSP00000438885.2:n.1005+32_1005+33del | |
| ENST00000544997.6:c.1545+32_1545+33del | ENSP00000445778.2:n.1545+32_1545+33del | |
| ENST00000545896.2:c.234+32_234+33del | ENSP00000440209.2:n.234+32_234+33del | |
| ENST00000546255.2:n.1849+32_1849+33del | ||
| ENST00000698845.1:c.*740+32_*740+33del | ENSP00000513981.1:n.*740+32_*740+33del | |
| ENST00000698846.1:n.1791+32_1791+33del | ||
| ENST00000698847.1:c.*950+32_*950+33del | ENSP00000513982.1:n.*950+32_*950+33del | |
| ENST00000698850.1:n.1345_1346del | ||
| ENST00000698852.1:c.1545+32_1545+33del | ENSP00000513984.1:n.1545+32_1545+33del | |
| ENST00000698853.1:c.*774+32_*774+33del | ENSP00000513985.1:n.*774+32_*774+33del | |
| ENST00000698854.1:c.*875+32_*875+33del | ENSP00000513986.1:n.*875+32_*875+33del | |
| ENST00000698855.1:n.3197+32_3197+33del | ||
| ENST00000698856.1:n.2891+32_2891+33del | ||
| ENST00000698859.1:n.1741_1742del | ||
| ENST00000698860.1:c.1557+32_1557+33del | ENSP00000513988.1:n.1557+32_1557+33del | |
| ENST00000698861.1:c.1545+32_1545+33del | ENSP00000513989.1:n.1545+32_1545+33del | |
| ENST00000698862.1:c.*841+32_*841+33del | ENSP00000513990.1:n.*841+32_*841+33del | |
| ENST00000698863.1:c.1545+32_1545+33del | ENSP00000513991.1:n.1545+32_1545+33del | |
| ENST00000698864.1:n.1792_1793del | ||
| ENST00000698865.1:c.1566+32_1566+33del | ENSP00000513992.1:n.1566+32_1566+33del | |
| ENST00000698866.1:c.*1059+32_*1059+33del | ENSP00000513993.1:n.*1059+32_*1059+33del | |
| ENST00000698867.1:n.5520+32_5520+33del | ||
| ENST00000698868.1:c.1410+32_1410+33del | ENSP00000513994.1:n.1410+32_1410+33del | |
| ENST00000698869.1:c.1312-315_1312-314del | ENSP00000513995.1:n.1312-315_1312-314del | |
| ENST00000698870.1:c.1545+32_1545+33del | ENSP00000513996.1:n.1545+32_1545+33del | |
| ENST00000698871.1:n.2068+32_2068+33del | ||
| ENST00000698872.1:c.*334+32_*334+33del | ENSP00000513997.1:n.*334+32_*334+33del | |
| ENST00000698873.1:c.*740+32_*740+33del | ENSP00000513998.1:n.*740+32_*740+33del | |
| ENST00000698874.1:c.1005+32_1005+33del | ENSP00000513999.1:n.1005+32_1005+33del | |
| ENST00000698875.1:n.1405+32_1405+33del | ||
| ENST00000698876.1:n.1593+32_1593+33del | ||
| ENST00000698877.1:n.1113+32_1113+33del | ||
| ENST00000698878.1:c.1539+32_1539+33del | ENSP00000514000.1:n.1539+32_1539+33del | |
| ENST00000698880.1:c.1413+32_1413+33del | ||
| ENST00000345728.10:c.1545+32_1545+33del MANE Select | ENSP00000339950.5:n.1545+32_1545+33del | |
| ENST00000279227.9:c.1557+32_1557+33del | ENSP00000279227.5:n.1557+32_1557+33del | |
| ENST00000345728.9:c.1545+32_1545+33del | ENSP00000339950.5:n.1545+32_1545+33del | |
| ENST00000545896.1:c.233+32_233+33del | ENSP00000440209.1:n.233+32_233+33del | |
| NM_031471.5:c.1545+32_1545+33del | NP_113659.3:n.1545+32_1545+33del | |
| NM_178443.2:c.1557+32_1557+33del , LRG_180t1:c.1557+32_1557+33del | NP_848537.1:n.1557+32_1557+33del | |
| XM_011545294.1:c.1557+32_1557+33del | XP_011543596.1:n.1557+32_1557+33del | |
| XM_011545295.1:c.1017+32_1017+33del | XP_011543597.1:n.1017+32_1017+33del | |
| XM_011545296.1:c.1017+32_1017+33del | XP_011543598.1:n.1017+32_1017+33del | |
| XM_011545294.3:c.1557+32_1557+33del | XP_011543596.1:n.1557+32_1557+33del | |
| XM_011545295.2:c.1017+32_1017+33del | XP_011543597.1:n.1017+32_1017+33del | |
| XM_017018398.2:c.1545+32_1545+33del | XP_016873887.1:n.1545+32_1545+33del | |
| XM_017018399.1:c.1005+32_1005+33del | XP_016873888.1:n.1005+32_1005+33del | |
| NM_031471.6:c.1545+32_1545+33del MANE Select | NP_113659.3:n.1545+32_1545+33del | |
| NM_001382361.1:c.1545+32_1545+33del | NP_001369290.1:n.1545+32_1545+33del | |
| NM_001382362.1:c.1557+32_1557+33del | NP_001369291.1:n.1557+32_1557+33del | |
| NM_001382363.1:c.1005+32_1005+33del | NP_001369292.1:n.1005+32_1005+33del | |
| NM_001382364.1:c.1017+32_1017+33del | NP_001369293.1:n.1017+32_1017+33del | |
| NM_001382448.1:c.1545+32_1545+33del | NP_001369377.1:n.1545+32_1545+33del | |
| NM_178443.3:c.1557+32_1557+33del | NP_848537.1:n.1557+32_1557+33del |