Linked Data
dbSNP Id:
rs755341098
ExAC:
11:63990488 G / GCCC
gnomAD v2:
11-63990488-G-GCCC
gnomAD v4:
11-64223016-G-GCCC
MyVariant Identifiers:
chr11:g.63990488_63990489insCCC (hg19)
chr11:g.64223016_64223017insCCC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64223017_64223019dup , CM000673.2:g.64223017_64223019dup | GRCh38 |
| NC_000011.9:g.63990489_63990491dup , CM000673.1:g.63990489_63990491dup | GRCh37 |
| NC_000011.8:g.63747065_63747067dup | NCBI36 |
| NG_016360.1:g.21338_21340dup , LRG_180:g.21338_21340dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000279227.10:c.1683-31_1683-29dup | ENSP00000279227.5:n.1683-31_1683-29dup | |
| ENST00000540554.2:n.3195-31_3195-29dup | ||
| ENST00000541252.2:c.1131-31_1131-29dup | ENSP00000438885.2:n.1131-31_1131-29dup | |
| ENST00000544997.6:c.1671-31_1671-29dup | ENSP00000445778.2:n.1671-31_1671-29dup | |
| ENST00000545896.2:c.235-31_235-29dup | ENSP00000440209.2:n.235-31_235-29dup | |
| ENST00000546255.2:n.1975-31_1975-29dup | ||
| ENST00000698845.1:c.*866-31_*866-29dup | ENSP00000513981.1:n.*866-31_*866-29dup | |
| ENST00000698846.1:n.1917-31_1917-29dup | ||
| ENST00000698847.1:c.*1076-31_*1076-29dup | ENSP00000513982.1:n.*1076-31_*1076-29dup | |
| ENST00000698850.1:n.3661_3663dup | ||
| ENST00000698852.1:c.1671-31_1671-29dup | ENSP00000513984.1:n.1671-31_1671-29dup | |
| ENST00000698853.1:c.*900-31_*900-29dup | ENSP00000513985.1:n.*900-31_*900-29dup | |
| ENST00000698854.1:c.*1001-31_*1001-29dup | ENSP00000513986.1:n.*1001-31_*1001-29dup | |
| ENST00000698855.1:n.3323-31_3323-29dup | ||
| ENST00000698856.1:n.3017-31_3017-29dup | ||
| ENST00000698859.1:n.2181-31_2181-29dup | ||
| ENST00000698860.1:c.1683-31_1683-29dup | ENSP00000513988.1:n.1683-31_1683-29dup | |
| ENST00000698861.1:c.1671-31_1671-29dup | ENSP00000513989.1:n.1671-31_1671-29dup | |
| ENST00000698862.1:c.*967-31_*967-29dup | ENSP00000513990.1:n.*967-31_*967-29dup | |
| ENST00000698863.1:c.1671-31_1671-29dup | ENSP00000513991.1:n.1671-31_1671-29dup | |
| ENST00000698864.1:n.2232-31_2232-29dup | ||
| ENST00000698865.1:c.1692-31_1692-29dup | ENSP00000513992.1:n.1692-31_1692-29dup | |
| ENST00000698866.1:c.*1459-31_*1459-29dup | ENSP00000513993.1:n.*1459-31_*1459-29dup | |
| ENST00000698867.1:n.5646-31_5646-29dup | ||
| ENST00000698868.1:c.1536-31_1536-29dup | ENSP00000513994.1:n.1536-31_1536-29dup | |
| ENST00000698869.1:c.1437-31_1437-29dup | ENSP00000513995.1:n.1437-31_1437-29dup | |
| ENST00000698870.1:c.1671-31_1671-29dup | ENSP00000513996.1:n.1671-31_1671-29dup | |
| ENST00000698871.1:n.2194-31_2194-29dup | ||
| ENST00000698872.1:c.*460-31_*460-29dup | ENSP00000513997.1:n.*460-31_*460-29dup | |
| ENST00000698873.1:c.*866-31_*866-29dup | ENSP00000513998.1:n.*866-31_*866-29dup | |
| ENST00000698874.1:c.1131-31_1131-29dup | ENSP00000513999.1:n.1131-31_1131-29dup | |
| ENST00000698875.1:n.1531-31_1531-29dup | ||
| ENST00000698876.1:n.1719-31_1719-29dup | ||
| ENST00000698877.1:n.1239-31_1239-29dup | ||
| ENST00000698878.1:c.1665-31_1665-29dup | ENSP00000514000.1:n.1665-31_1665-29dup | |
| ENST00000698880.1:c.1539-31_1539-29dup | ||
| ENST00000345728.10:c.1671-31_1671-29dup MANE Select | ENSP00000339950.5:n.1671-31_1671-29dup | |
| ENST00000279227.9:c.1683-31_1683-29dup | ENSP00000279227.5:n.1683-31_1683-29dup | |
| ENST00000345728.9:c.1671-31_1671-29dup | ENSP00000339950.5:n.1671-31_1671-29dup | |
| ENST00000540554.1:n.307-31_307-29dup | ||
| ENST00000545896.1:c.234-31_234-29dup | ENSP00000440209.1:n.234-31_234-29dup | |
| NM_031471.5:c.1671-31_1671-29dup | NP_113659.3:n.1671-31_1671-29dup | |
| NM_178443.2:c.1683-31_1683-29dup , LRG_180t1:c.1683-31_1683-29dup | NP_848537.1:n.1683-31_1683-29dup | |
| XM_011545294.1:c.1683-31_1683-29dup | XP_011543596.1:n.1683-31_1683-29dup | |
| XM_011545295.1:c.1143-31_1143-29dup | XP_011543597.1:n.1143-31_1143-29dup | |
| XM_011545296.1:c.1143-31_1143-29dup | XP_011543598.1:n.1143-31_1143-29dup | |
| XM_011545294.3:c.1683-31_1683-29dup | XP_011543596.1:n.1683-31_1683-29dup | |
| XM_011545295.2:c.1143-31_1143-29dup | XP_011543597.1:n.1143-31_1143-29dup | |
| XM_017018398.2:c.1671-31_1671-29dup | XP_016873887.1:n.1671-31_1671-29dup | |
| XM_017018399.1:c.1131-31_1131-29dup | XP_016873888.1:n.1131-31_1131-29dup | |
| NM_031471.6:c.1671-31_1671-29dup MANE Select | NP_113659.3:n.1671-31_1671-29dup | |
| NM_001382361.1:c.1671-31_1671-29dup | NP_001369290.1:n.1671-31_1671-29dup | |
| NM_001382362.1:c.1683-31_1683-29dup | NP_001369291.1:n.1683-31_1683-29dup | |
| NM_001382363.1:c.1131-31_1131-29dup | NP_001369292.1:n.1131-31_1131-29dup | |
| NM_001382364.1:c.1143-31_1143-29dup | NP_001369293.1:n.1143-31_1143-29dup | |
| NM_001382448.1:c.1671-31_1671-29dup | NP_001369377.1:n.1671-31_1671-29dup | |
| NM_178443.3:c.1683-31_1683-29dup | NP_848537.1:n.1683-31_1683-29dup |