Linked Data
dbSNP Id:
rs1565296875
gnomAD v2:
11-63988172-ATAG-A
gnomAD v4:
11-64220700-ATAG-A
MyVariant Identifiers:
chr11:g.63988173_63988175del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64220702_64220704del , CM000673.2:g.64220702_64220704del | GRCh38 |
| NC_000011.9:g.63988174_63988176del , CM000673.1:g.63988174_63988176del | GRCh37 |
| NC_000011.8:g.63744750_63744752del | NCBI36 |
| NG_016360.1:g.19023_19025del , LRG_180:g.19023_19025del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000279227.10:c.1557+33_1557+35del | ENSP00000279227.5:n.1557+33_1557+35del | |
| ENST00000540554.2:n.2756_2758del | ||
| ENST00000541252.2:c.1005+33_1005+35del | ENSP00000438885.2:n.1005+33_1005+35del | |
| ENST00000544997.6:c.1545+33_1545+35del | ENSP00000445778.2:n.1545+33_1545+35del | |
| ENST00000545896.2:c.234+33_234+35del | ENSP00000440209.2:n.234+33_234+35del | |
| ENST00000546255.2:n.1849+33_1849+35del | ||
| ENST00000698845.1:c.*740+33_*740+35del | ENSP00000513981.1:n.*740+33_*740+35del | |
| ENST00000698846.1:n.1791+33_1791+35del | ||
| ENST00000698847.1:c.*950+33_*950+35del | ENSP00000513982.1:n.*950+33_*950+35del | |
| ENST00000698850.1:n.1346_1348del | ||
| ENST00000698852.1:c.1545+33_1545+35del | ENSP00000513984.1:n.1545+33_1545+35del | |
| ENST00000698853.1:c.*774+33_*774+35del | ENSP00000513985.1:n.*774+33_*774+35del | |
| ENST00000698854.1:c.*875+33_*875+35del | ENSP00000513986.1:n.*875+33_*875+35del | |
| ENST00000698855.1:n.3197+33_3197+35del | ||
| ENST00000698856.1:n.2891+33_2891+35del | ||
| ENST00000698859.1:n.1742_1744del | ||
| ENST00000698860.1:c.1557+33_1557+35del | ENSP00000513988.1:n.1557+33_1557+35del | |
| ENST00000698861.1:c.1545+33_1545+35del | ENSP00000513989.1:n.1545+33_1545+35del | |
| ENST00000698862.1:c.*841+33_*841+35del | ENSP00000513990.1:n.*841+33_*841+35del | |
| ENST00000698863.1:c.1545+33_1545+35del | ENSP00000513991.1:n.1545+33_1545+35del | |
| ENST00000698864.1:n.1793_1795del | ||
| ENST00000698865.1:c.1566+33_1566+35del | ENSP00000513992.1:n.1566+33_1566+35del | |
| ENST00000698866.1:c.*1059+33_*1059+35del | ENSP00000513993.1:n.*1059+33_*1059+35del | |
| ENST00000698867.1:n.5520+33_5520+35del | ||
| ENST00000698868.1:c.1410+33_1410+35del | ENSP00000513994.1:n.1410+33_1410+35del | |
| ENST00000698869.1:c.1312-314_1312-312del | ENSP00000513995.1:n.1312-314_1312-312del | |
| ENST00000698870.1:c.1545+33_1545+35del | ENSP00000513996.1:n.1545+33_1545+35del | |
| ENST00000698871.1:n.2068+33_2068+35del | ||
| ENST00000698872.1:c.*334+33_*334+35del | ENSP00000513997.1:n.*334+33_*334+35del | |
| ENST00000698873.1:c.*740+33_*740+35del | ENSP00000513998.1:n.*740+33_*740+35del | |
| ENST00000698874.1:c.1005+33_1005+35del | ENSP00000513999.1:n.1005+33_1005+35del | |
| ENST00000698875.1:n.1405+33_1405+35del | ||
| ENST00000698876.1:n.1593+33_1593+35del | ||
| ENST00000698877.1:n.1113+33_1113+35del | ||
| ENST00000698878.1:c.1539+33_1539+35del | ENSP00000514000.1:n.1539+33_1539+35del | |
| ENST00000698880.1:c.1413+33_1413+35del | ||
| ENST00000345728.10:c.1545+33_1545+35del MANE Select | ENSP00000339950.5:n.1545+33_1545+35del | |
| ENST00000279227.9:c.1557+33_1557+35del | ENSP00000279227.5:n.1557+33_1557+35del | |
| ENST00000345728.9:c.1545+33_1545+35del | ENSP00000339950.5:n.1545+33_1545+35del | |
| ENST00000545896.1:c.233+33_233+35del | ENSP00000440209.1:n.233+33_233+35del | |
| NM_031471.5:c.1545+33_1545+35del | NP_113659.3:n.1545+33_1545+35del | |
| NM_178443.2:c.1557+33_1557+35del , LRG_180t1:c.1557+33_1557+35del | NP_848537.1:n.1557+33_1557+35del | |
| XM_011545294.1:c.1557+33_1557+35del | XP_011543596.1:n.1557+33_1557+35del | |
| XM_011545295.1:c.1017+33_1017+35del | XP_011543597.1:n.1017+33_1017+35del | |
| XM_011545296.1:c.1017+33_1017+35del | XP_011543598.1:n.1017+33_1017+35del | |
| XM_011545294.3:c.1557+33_1557+35del | XP_011543596.1:n.1557+33_1557+35del | |
| XM_011545295.2:c.1017+33_1017+35del | XP_011543597.1:n.1017+33_1017+35del | |
| XM_017018398.2:c.1545+33_1545+35del | XP_016873887.1:n.1545+33_1545+35del | |
| XM_017018399.1:c.1005+33_1005+35del | XP_016873888.1:n.1005+33_1005+35del | |
| NM_031471.6:c.1545+33_1545+35del MANE Select | NP_113659.3:n.1545+33_1545+35del | |
| NM_001382361.1:c.1545+33_1545+35del | NP_001369290.1:n.1545+33_1545+35del | |
| NM_001382362.1:c.1557+33_1557+35del | NP_001369291.1:n.1557+33_1557+35del | |
| NM_001382363.1:c.1005+33_1005+35del | NP_001369292.1:n.1005+33_1005+35del | |
| NM_001382364.1:c.1017+33_1017+35del | NP_001369293.1:n.1017+33_1017+35del | |
| NM_001382448.1:c.1545+33_1545+35del | NP_001369377.1:n.1545+33_1545+35del | |
| NM_178443.3:c.1557+33_1557+35del | NP_848537.1:n.1557+33_1557+35del |