Linked Data
dbSNP Id:
rs1565751315
gnomAD v2:
12-40716881-TA-T
gnomAD v3:
12-40323079-TA-T
gnomAD v4:
12-40323079-TA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.40323080del , CM000674.2:g.40323080del | GRCh38 |
| NC_000012.11:g.40716882del , CM000674.1:g.40716882del | GRCh37 |
| NC_000012.10:g.39003149del | NCBI36 |
| NG_011709.1:g.103070del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298910.12:c.5510-80del MANE Select | ENSP00000298910.7:n.5510-80del | |
| ENST00000679360.1:c.*4419-80del | ENSP00000505368.1:n.*4419-80del | |
| ENST00000679532.1:c.1284-80del | ||
| ENST00000680018.1:c.955-80del | ENSP00000505347.1:n.955-80del | |
| ENST00000680422.1:c.1155-80del | ||
| ENST00000680425.1:c.677-80del | ENSP00000506459.1:n.677-80del | |
| ENST00000680453.1:c.967-80del | ||
| ENST00000680790.1:c.5255-80del | ENSP00000505335.1:n.5255-80del | |
| ENST00000681136.1:n.1494-80del | ||
| ENST00000681696.1:c.1193-80del | ENSP00000505871.1:n.1193-80del | |
| ENST00000298910.11:c.5510-80del | ENSP00000298910.7:n.5510-80del | |
| ENST00000430804.5:c.2806-80del | ||
| ENST00000479187.5:n.2191-80del | ||
| NM_198578.3:c.5510-80del | NP_940980.3:n.5510-80del | |
| XM_005268629.2:c.5510-80del | XP_005268686.1:n.5510-80del | |
| XM_011537877.1:c.5510-80del | XP_011536179.1:n.5510-80del | |
| XM_011537878.1:c.5510-80del | XP_011536180.1:n.5510-80del | |
| XM_011537879.1:c.4307-80del | XP_011536181.1:n.4307-80del | |
| XM_005268629.4:c.5510-80del | XP_005268686.1:n.5510-80del | |
| XM_011537877.3:c.5510-80del | XP_011536179.1:n.5510-80del | |
| XM_017018787.1:c.2426-80del | XP_016874276.1:n.2426-80del | |
| XM_017018788.2:c.1772-80del | XP_016874277.1:n.1772-80del | |
| XM_024448833.1:c.4307-80del | XP_024304601.1:n.4307-80del | |
| NM_198578.4:c.5510-80del MANE Select | NP_940980.4:n.5510-80del |