Linked Data
dbSNP Id:
rs1237083834
gnomAD v2:
11-63990056-AAG-A
gnomAD v3:
11-64222584-AAG-A
gnomAD v4:
11-64222584-AAG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64222588_64222589del , CM000673.2:g.64222588_64222589del | GRCh38 |
| NC_000011.9:g.63990060_63990061del , CM000673.1:g.63990060_63990061del | GRCh37 |
| NC_000011.8:g.63746636_63746637del | NCBI36 |
| NG_016360.1:g.20909_20910del , LRG_180:g.20909_20910del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000279227.10:c.1683-460_1683-459del | ENSP00000279227.5:n.1683-460_1683-459del | |
| ENST00000540554.2:n.3195-460_3195-459del | ||
| ENST00000541252.2:c.1131-460_1131-459del | ENSP00000438885.2:n.1131-460_1131-459del | |
| ENST00000544997.6:c.1671-460_1671-459del | ENSP00000445778.2:n.1671-460_1671-459del | |
| ENST00000545896.2:c.235-460_235-459del | ENSP00000440209.2:n.235-460_235-459del | |
| ENST00000546255.2:n.1975-460_1975-459del | ||
| ENST00000698845.1:c.*866-460_*866-459del | ENSP00000513981.1:n.*866-460_*866-459del | |
| ENST00000698846.1:n.1917-460_1917-459del | ||
| ENST00000698847.1:c.*1076-460_*1076-459del | ENSP00000513982.1:n.*1076-460_*1076-459del | |
| ENST00000698850.1:n.3232_3233del | ||
| ENST00000698852.1:c.1671-460_1671-459del | ENSP00000513984.1:n.1671-460_1671-459del | |
| ENST00000698853.1:c.*900-460_*900-459del | ENSP00000513985.1:n.*900-460_*900-459del | |
| ENST00000698854.1:c.*1001-460_*1001-459del | ENSP00000513986.1:n.*1001-460_*1001-459del | |
| ENST00000698855.1:n.3323-460_3323-459del | ||
| ENST00000698856.1:n.3017-460_3017-459del | ||
| ENST00000698859.1:n.2181-460_2181-459del | ||
| ENST00000698860.1:c.1683-460_1683-459del | ENSP00000513988.1:n.1683-460_1683-459del | |
| ENST00000698861.1:c.1671-460_1671-459del | ENSP00000513989.1:n.1671-460_1671-459del | |
| ENST00000698862.1:c.*967-460_*967-459del | ENSP00000513990.1:n.*967-460_*967-459del | |
| ENST00000698863.1:c.1671-460_1671-459del | ENSP00000513991.1:n.1671-460_1671-459del | |
| ENST00000698864.1:n.2232-460_2232-459del | ||
| ENST00000698865.1:c.1692-460_1692-459del | ENSP00000513992.1:n.1692-460_1692-459del | |
| ENST00000698866.1:c.*1459-460_*1459-459del | ENSP00000513993.1:n.*1459-460_*1459-459del | |
| ENST00000698867.1:n.5646-460_5646-459del | ||
| ENST00000698868.1:c.1536-460_1536-459del | ENSP00000513994.1:n.1536-460_1536-459del | |
| ENST00000698869.1:c.1437-460_1437-459del | ENSP00000513995.1:n.1437-460_1437-459del | |
| ENST00000698870.1:c.1671-460_1671-459del | ENSP00000513996.1:n.1671-460_1671-459del | |
| ENST00000698871.1:n.2194-460_2194-459del | ||
| ENST00000698872.1:c.*460-460_*460-459del | ENSP00000513997.1:n.*460-460_*460-459del | |
| ENST00000698873.1:c.*866-460_*866-459del | ENSP00000513998.1:n.*866-460_*866-459del | |
| ENST00000698874.1:c.1131-460_1131-459del | ENSP00000513999.1:n.1131-460_1131-459del | |
| ENST00000698875.1:n.1531-460_1531-459del | ||
| ENST00000698876.1:n.1719-460_1719-459del | ||
| ENST00000698877.1:n.1239-460_1239-459del | ||
| ENST00000698878.1:c.1665-460_1665-459del | ENSP00000514000.1:n.1665-460_1665-459del | |
| ENST00000698880.1:c.1539-460_1539-459del | ||
| ENST00000345728.10:c.1671-460_1671-459del MANE Select | ENSP00000339950.5:n.1671-460_1671-459del | |
| ENST00000279227.9:c.1683-460_1683-459del | ENSP00000279227.5:n.1683-460_1683-459del | |
| ENST00000345728.9:c.1671-460_1671-459del | ENSP00000339950.5:n.1671-460_1671-459del | |
| ENST00000540554.1:n.307-460_307-459del | ||
| ENST00000545896.1:c.234-460_234-459del | ENSP00000440209.1:n.234-460_234-459del | |
| NM_031471.5:c.1671-460_1671-459del | NP_113659.3:n.1671-460_1671-459del | |
| NM_178443.2:c.1683-460_1683-459del , LRG_180t1:c.1683-460_1683-459del | NP_848537.1:n.1683-460_1683-459del | |
| XM_011545294.1:c.1683-460_1683-459del | XP_011543596.1:n.1683-460_1683-459del | |
| XM_011545295.1:c.1143-460_1143-459del | XP_011543597.1:n.1143-460_1143-459del | |
| XM_011545296.1:c.1143-460_1143-459del | XP_011543598.1:n.1143-460_1143-459del | |
| XM_011545294.3:c.1683-460_1683-459del | XP_011543596.1:n.1683-460_1683-459del | |
| XM_011545295.2:c.1143-460_1143-459del | XP_011543597.1:n.1143-460_1143-459del | |
| XM_017018398.2:c.1671-460_1671-459del | XP_016873887.1:n.1671-460_1671-459del | |
| XM_017018399.1:c.1131-460_1131-459del | XP_016873888.1:n.1131-460_1131-459del | |
| NM_031471.6:c.1671-460_1671-459del MANE Select | NP_113659.3:n.1671-460_1671-459del | |
| NM_001382361.1:c.1671-460_1671-459del | NP_001369290.1:n.1671-460_1671-459del | |
| NM_001382362.1:c.1683-460_1683-459del | NP_001369291.1:n.1683-460_1683-459del | |
| NM_001382363.1:c.1131-460_1131-459del | NP_001369292.1:n.1131-460_1131-459del | |
| NM_001382364.1:c.1143-460_1143-459del | NP_001369293.1:n.1143-460_1143-459del | |
| NM_001382448.1:c.1671-460_1671-459del | NP_001369377.1:n.1671-460_1671-459del | |
| NM_178443.3:c.1683-460_1683-459del | NP_848537.1:n.1683-460_1683-459del |