Linked Data
dbSNP Id:
rs1302198795
gnomAD v2:
11-108014457-CCAAAAA-C
gnomAD v3:
11-108143730-CCAAAAA-C
gnomAD v4:
11-108143730-CCAAAAA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108143733_108143738del , CM000673.2:g.108143733_108143738del | GRCh38 |
| NC_000011.9:g.108014460_108014465del , CM000673.1:g.108014460_108014465del | GRCh37 |
| NC_000011.8:g.107519670_107519675del | NCBI36 |
| NG_009888.1:g.27203_27208del | |
| NG_009888.2:g.32029_32034del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265838.9:c.941-250_941-245del MANE Select | ENSP00000265838.4:n.941-250_941-245del | |
| ENST00000671707.1:n.1036-250_1036-245del | ||
| ENST00000672031.1:c.940+1183_940+1188del | ENSP00000500463.1:n.940+1183_940+1188del | |
| ENST00000672284.1:c.671-250_671-245del | ENSP00000500444.1:n.671-250_671-245del | |
| ENST00000672354.1:c.941-250_941-245del | ENSP00000500490.1:n.941-250_941-245del | |
| ENST00000672367.1:c.578-250_578-245del | ENSP00000500209.1:n.578-250_578-245del | |
| ENST00000672580.1:c.*196-250_*196-245del | ENSP00000500366.1:n.*196-250_*196-245del | |
| ENST00000672907.1:c.626-250_626-245del | ENSP00000500928.1:n.626-250_626-245del | |
| ENST00000673000.1:n.1029-250_1029-245del | ||
| ENST00000673531.1:c.671-250_671-245del | ENSP00000500163.1:n.671-250_671-245del | |
| ENST00000265838.8:c.941-250_941-245del | ENSP00000265838.4:n.941-250_941-245del | |
| ENST00000531813.5:c.*1596_*1601del | ENSP00000435965.1:n.*1596_*1601del | |
| ENST00000532792.5:n.436-250_436-245del | ||
| ENST00000533610.1:n.402-250_402-245del | ||
| NM_000019.3:c.941-250_941-245del | NP_000010.1:n.941-250_941-245del | |
| XM_006718834.2:c.671-250_671-245del | XP_006718897.1:n.671-250_671-245del | |
| XM_006718835.2:c.671-250_671-245del | XP_006718898.1:n.671-250_671-245del | |
| XM_006718835.3:c.671-250_671-245del | XP_006718898.1:n.671-250_671-245del | |
| XM_017017681.1:c.671-250_671-245del | XP_016873170.1:n.671-250_671-245del | |
| XM_017017682.2:c.563-250_563-245del | XP_016873171.1:n.563-250_563-245del | |
| XM_017017683.2:c.563-250_563-245del | XP_016873172.1:n.563-250_563-245del | |
| XM_024448511.1:c.671-250_671-245del | XP_024304279.1:n.671-250_671-245del | |
| XM_024448512.1:c.671-250_671-245del | XP_024304280.1:n.671-250_671-245del | |
| XM_024448513.1:c.671-250_671-245del | XP_024304281.1:n.671-250_671-245del | |
| XM_024448514.1:c.671-250_671-245del | XP_024304282.1:n.671-250_671-245del | |
| XM_024448515.1:c.671-250_671-245del | XP_024304283.1:n.671-250_671-245del | |
| NM_000019.4:c.941-250_941-245del MANE Select | NP_000010.1:n.941-250_941-245del | |
| NM_001386677.1:c.941-250_941-245del | NP_001373606.1:n.941-250_941-245del | |
| NM_001386678.1:c.626-250_626-245del | NP_001373607.1:n.626-250_626-245del | |
| NM_001386679.1:c.644-250_644-245del | NP_001373608.1:n.644-250_644-245del | |
| NM_001386681.1:c.671-250_671-245del | NP_001373610.1:n.671-250_671-245del | |
| NM_001386682.1:c.671-250_671-245del | NP_001373611.1:n.671-250_671-245del | |
| NM_001386685.1:c.671-250_671-245del | NP_001373614.1:n.671-250_671-245del | |
| NM_001386686.1:c.671-250_671-245del | NP_001373615.1:n.671-250_671-245del | |
| NM_001386687.1:c.671-250_671-245del | NP_001373616.1:n.671-250_671-245del | |
| NM_001386688.1:c.671-250_671-245del | NP_001373617.1:n.671-250_671-245del | |
| NM_001386689.1:c.671-250_671-245del | NP_001373618.1:n.671-250_671-245del | |
| NM_001386690.1:c.671-250_671-245del | NP_001373619.1:n.671-250_671-245del | |
| NM_001386691.1:c.671-250_671-245del | NP_001373620.1:n.671-250_671-245del | |
| NR_170162.1:n.980+1183_980+1188del | ||
| NR_170163.1:n.974-250_974-245del |