Linked Data
dbSNP Id:
rs992511573
gnomAD v2:
12-24981433-G-GA
gnomAD v3:
12-24828499-G-GA
gnomAD v4:
12-24828499-G-GA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.24828508dup , CM000674.2:g.24828508dup | GRCh38 |
| NC_000012.11:g.24981442dup , CM000674.1:g.24981442dup | GRCh37 |
| NC_000012.10:g.24872709dup | NCBI36 |
| NG_008170.1:g.125875dup | |
| NG_008170.2:g.125875dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261192.12:c.1119+1323dup MANE Select | ENSP00000261192.7:n.1119+1323dup | |
| ENST00000261192.11:c.1119+1323dup | ENSP00000261192.7:n.1119+1323dup | |
| ENST00000342945.9:c.936+1323dup | ENSP00000339805.5:n.936+1323dup | |
| ENST00000538118.5:c.1116+1323dup | ENSP00000440817.1:n.1116+1323dup | |
| ENST00000539282.5:c.1155+1323dup | ENSP00000443459.1:n.1155+1323dup | |
| ENST00000539780.5:c.1008+1323dup | ENSP00000440827.1:n.1008+1323dup | |
| ENST00000543099.1:n.174+1323dup | ||
| NM_001178091.1:c.1008+1323dup | NP_001171562.1:n.1008+1323dup | |
| NM_001178092.1:c.936+1323dup | NP_001171563.1:n.936+1323dup | |
| NM_001178093.1:c.1155+1323dup | NP_001171564.1:n.1155+1323dup | |
| NM_001178094.1:c.1116+1323dup | NP_001171565.1:n.1116+1323dup | |
| NM_005504.6:c.1119+1323dup | NP_005495.2:n.1119+1323dup | |
| XM_011520810.1:c.1155+1323dup | XP_011519112.1:n.1155+1323dup | |
| XR_931441.1:n.1532-2193dup | ||
| XR_931442.1:n.1532-2193dup | ||
| XR_931443.1:n.1439-2193dup | ||
| XM_017019768.2:c.1221+1323dup | XP_016875257.1:n.1221+1323dup | |
| XR_001748835.2:n.4171+1323dup | ||
| XR_001749047.1:n.3978-2193dup | ||
| XR_001749048.2:n.3978-2193dup | ||
| XR_001749049.1:n.3885-2193dup | ||
| NM_005504.7:c.1119+1323dup MANE Select | NP_005495.2:n.1119+1323dup | |
| NM_001178091.2:c.1008+1323dup | NP_001171562.1:n.1008+1323dup | |
| NM_001178092.2:c.936+1323dup | NP_001171563.1:n.936+1323dup | |
| NM_001178093.2:c.1155+1323dup | NP_001171564.1:n.1155+1323dup | |
| NM_001178094.2:c.1116+1323dup | NP_001171565.1:n.1116+1323dup |