Linked Data
dbSNP Id:
rs779283576
ExAC:
11:63990494 GCTCA / G
gnomAD v3:
11-64223022-GCTCA-G
gnomAD v4:
11-64223022-GCTCA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64223026_64223029del , CM000673.2:g.64223026_64223029del | GRCh38 |
| NC_000011.9:g.63990498_63990501del , CM000673.1:g.63990498_63990501del | GRCh37 |
| NC_000011.8:g.63747074_63747077del | NCBI36 |
| NG_016360.1:g.21347_21350del , LRG_180:g.21347_21350del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000279227.10:c.1683-22_1683-19del | ENSP00000279227.5:n.1683-22_1683-19del | |
| ENST00000540554.2:n.3195-22_3195-19del | ||
| ENST00000541252.2:c.1131-22_1131-19del | ENSP00000438885.2:n.1131-22_1131-19del | |
| ENST00000544997.6:c.1671-22_1671-19del | ENSP00000445778.2:n.1671-22_1671-19del | |
| ENST00000545896.2:c.235-22_235-19del | ENSP00000440209.2:n.235-22_235-19del | |
| ENST00000546255.2:n.1975-22_1975-19del | ||
| ENST00000698845.1:c.*866-22_*866-19del | ENSP00000513981.1:n.*866-22_*866-19del | |
| ENST00000698846.1:n.1917-22_1917-19del | ||
| ENST00000698847.1:c.*1076-22_*1076-19del | ENSP00000513982.1:n.*1076-22_*1076-19del | |
| ENST00000698850.1:n.3670_3673del | ||
| ENST00000698852.1:c.1671-22_1671-19del | ENSP00000513984.1:n.1671-22_1671-19del | |
| ENST00000698853.1:c.*900-22_*900-19del | ENSP00000513985.1:n.*900-22_*900-19del | |
| ENST00000698854.1:c.*1001-22_*1001-19del | ENSP00000513986.1:n.*1001-22_*1001-19del | |
| ENST00000698855.1:n.3323-22_3323-19del | ||
| ENST00000698856.1:n.3017-22_3017-19del | ||
| ENST00000698859.1:n.2181-22_2181-19del | ||
| ENST00000698860.1:c.1683-22_1683-19del | ENSP00000513988.1:n.1683-22_1683-19del | |
| ENST00000698861.1:c.1671-22_1671-19del | ENSP00000513989.1:n.1671-22_1671-19del | |
| ENST00000698862.1:c.*967-22_*967-19del | ENSP00000513990.1:n.*967-22_*967-19del | |
| ENST00000698863.1:c.1671-22_1671-19del | ENSP00000513991.1:n.1671-22_1671-19del | |
| ENST00000698864.1:n.2232-22_2232-19del | ||
| ENST00000698865.1:c.1692-22_1692-19del | ENSP00000513992.1:n.1692-22_1692-19del | |
| ENST00000698866.1:c.*1459-22_*1459-19del | ENSP00000513993.1:n.*1459-22_*1459-19del | |
| ENST00000698867.1:n.5646-22_5646-19del | ||
| ENST00000698868.1:c.1536-22_1536-19del | ENSP00000513994.1:n.1536-22_1536-19del | |
| ENST00000698869.1:c.1437-22_1437-19del | ENSP00000513995.1:n.1437-22_1437-19del | |
| ENST00000698870.1:c.1671-22_1671-19del | ENSP00000513996.1:n.1671-22_1671-19del | |
| ENST00000698871.1:n.2194-22_2194-19del | ||
| ENST00000698872.1:c.*460-22_*460-19del | ENSP00000513997.1:n.*460-22_*460-19del | |
| ENST00000698873.1:c.*866-22_*866-19del | ENSP00000513998.1:n.*866-22_*866-19del | |
| ENST00000698874.1:c.1131-22_1131-19del | ENSP00000513999.1:n.1131-22_1131-19del | |
| ENST00000698875.1:n.1531-22_1531-19del | ||
| ENST00000698876.1:n.1719-22_1719-19del | ||
| ENST00000698877.1:n.1239-22_1239-19del | ||
| ENST00000698878.1:c.1665-22_1665-19del | ENSP00000514000.1:n.1665-22_1665-19del | |
| ENST00000698880.1:c.1539-22_1539-19del | ||
| ENST00000345728.10:c.1671-22_1671-19del MANE Select | ENSP00000339950.5:n.1671-22_1671-19del | |
| ENST00000279227.9:c.1683-22_1683-19del | ENSP00000279227.5:n.1683-22_1683-19del | |
| ENST00000345728.9:c.1671-22_1671-19del | ENSP00000339950.5:n.1671-22_1671-19del | |
| ENST00000540554.1:n.307-22_307-19del | ||
| ENST00000545896.1:c.234-22_234-19del | ENSP00000440209.1:n.234-22_234-19del | |
| NM_031471.5:c.1671-22_1671-19del | NP_113659.3:n.1671-22_1671-19del | |
| NM_178443.2:c.1683-22_1683-19del , LRG_180t1:c.1683-22_1683-19del | NP_848537.1:n.1683-22_1683-19del | |
| XM_011545294.1:c.1683-22_1683-19del | XP_011543596.1:n.1683-22_1683-19del | |
| XM_011545295.1:c.1143-22_1143-19del | XP_011543597.1:n.1143-22_1143-19del | |
| XM_011545296.1:c.1143-22_1143-19del | XP_011543598.1:n.1143-22_1143-19del | |
| XM_011545294.3:c.1683-22_1683-19del | XP_011543596.1:n.1683-22_1683-19del | |
| XM_011545295.2:c.1143-22_1143-19del | XP_011543597.1:n.1143-22_1143-19del | |
| XM_017018398.2:c.1671-22_1671-19del | XP_016873887.1:n.1671-22_1671-19del | |
| XM_017018399.1:c.1131-22_1131-19del | XP_016873888.1:n.1131-22_1131-19del | |
| NM_031471.6:c.1671-22_1671-19del MANE Select | NP_113659.3:n.1671-22_1671-19del | |
| NM_001382361.1:c.1671-22_1671-19del | NP_001369290.1:n.1671-22_1671-19del | |
| NM_001382362.1:c.1683-22_1683-19del | NP_001369291.1:n.1683-22_1683-19del | |
| NM_001382363.1:c.1131-22_1131-19del | NP_001369292.1:n.1131-22_1131-19del | |
| NM_001382364.1:c.1143-22_1143-19del | NP_001369293.1:n.1143-22_1143-19del | |
| NM_001382448.1:c.1671-22_1671-19del | NP_001369377.1:n.1671-22_1671-19del | |
| NM_178443.3:c.1683-22_1683-19del | NP_848537.1:n.1683-22_1683-19del |