Linked Data
dbSNP Id:
rs1406127165
gnomAD v3:
12-40363201-AAAAGTAAGT-A
gnomAD v4:
12-40363201-AAAAGTAAGT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.40363208_40363216del , CM000674.2:g.40363208_40363216del | GRCh38 |
| NC_000012.11:g.40757010_40757018del , CM000674.1:g.40757010_40757018del | GRCh37 |
| NC_000012.10:g.39043277_39043285del | NCBI36 |
| NG_011709.1:g.143198_143206del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298910.12:c.7029-194_7029-186del MANE Select | ENSP00000298910.7:n.7029-194_7029-186del | |
| ENST00000636518.1:c.826-194_826-186del | ||
| ENST00000679360.1:c.*5938-194_*5938-186del | ENSP00000505368.1:n.*5938-194_*5938-186del | |
| ENST00000679532.1:c.2803-194_2803-186del | ||
| ENST00000679683.1:c.819-194_819-186del | ||
| ENST00000680018.1:c.2474-194_2474-186del | ENSP00000505347.1:n.2474-194_2474-186del | |
| ENST00000680422.1:c.4116-194_4116-186del | ||
| ENST00000680425.1:c.2196-194_2196-186del | ENSP00000506459.1:n.2196-194_2196-186del | |
| ENST00000680453.1:c.2486-194_2486-186del | ||
| ENST00000680790.1:c.6774-194_6774-186del | ENSP00000505335.1:n.6774-194_6774-186del | |
| ENST00000681136.1:n.3013-194_3013-186del | ||
| ENST00000681696.1:c.2712-194_2712-186del | ENSP00000505871.1:n.2712-194_2712-186del | |
| ENST00000681773.1:n.236-194_236-186del | ||
| ENST00000298910.11:c.7029-194_7029-186del | ENSP00000298910.7:n.7029-194_7029-186del | |
| ENST00000430804.5:c.4325-194_4325-186del | ||
| ENST00000479187.5:n.3710-194_3710-186del | ||
| NM_198578.3:c.7029-194_7029-186del | NP_940980.3:n.7029-194_7029-186del | |
| XM_005268629.2:c.7029-194_7029-186del | XP_005268686.1:n.7029-194_7029-186del | |
| XM_011537877.1:c.7029-194_7029-186del | XP_011536179.1:n.7029-194_7029-186del | |
| XM_011537878.1:c.*683_*691del | XP_011536180.1:n.*683_*691del | |
| XM_011537879.1:c.5826-194_5826-186del | XP_011536181.1:n.5826-194_5826-186del | |
| XR_944868.1:n.485-8383_485-8375del | ||
| XM_005268629.4:c.7029-194_7029-186del | XP_005268686.1:n.7029-194_7029-186del | |
| XM_011537877.3:c.7029-194_7029-186del | XP_011536179.1:n.7029-194_7029-186del | |
| XM_017018787.1:c.3945-194_3945-186del | XP_016874276.1:n.3945-194_3945-186del | |
| XM_017018788.2:c.3291-194_3291-186del | XP_016874277.1:n.3291-194_3291-186del | |
| XM_024448833.1:c.5826-194_5826-186del | XP_024304601.1:n.5826-194_5826-186del | |
| XR_944868.2:n.485-8383_485-8375del | ||
| NM_198578.4:c.7029-194_7029-186del MANE Select | NP_940980.4:n.7029-194_7029-186del |