Linked Data
dbSNP Id:
rs16405
gnomAD v2:
10-103313719-CAACAGTGGA-C
gnomAD v3:
10-101553962-CAACAGTGGA-C
gnomAD v4:
10-101553962-CAACAGTGGA-C
COSMIC:
COSN1111222
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.101553963_101553971del , CM000672.2:g.101553963_101553971del | GRCh38 |
| NC_000010.10:g.103313720_103313728del , CM000672.1:g.103313720_103313728del | GRCh37 |
| NC_000010.9:g.103303710_103303718del | NCBI36 |
| NG_009234.1:g.204896_204904del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370187.8:c.*840_*848del MANE Select | ENSP00000359206.3:n.*840_*848del | |
| ENST00000370187.7:c.*840_*848del | ENSP00000359206.3:n.*840_*848del | |
| ENST00000393441.8:c.*840_*848del | ENSP00000377088.5:n.*840_*848del | |
| ENST00000408038.6:c.*840_*848del | ENSP00000385339.2:n.*840_*848del | |
| NM_001256856.1:c.*840_*848del | NP_001243785.1:n.*840_*848del | |
| NM_003939.4:c.*840_*848del | NP_003930.1:n.*840_*848del | |
| NM_033637.3:c.*840_*848del | NP_378663.1:n.*840_*848del | |
| XM_005270264.2:c.*840_*848del | XP_005270321.1:n.*840_*848del | |
| XM_006718054.2:c.*840_*848del | XP_006718117.1:n.*840_*848del | |
| XM_011540320.1:c.*840_*848del | XP_011538622.1:n.*840_*848del | |
| XM_011540320.2:c.*840_*848del | XP_011538622.1:n.*840_*848del | |
| XM_017016870.1:c.*840_*848del | XP_016872359.1:n.*840_*848del | |
| XM_017016871.1:c.*840_*848del | XP_016872360.1:n.*840_*848del | |
| XM_017016872.1:c.*840_*848del | XP_016872361.1:n.*840_*848del | |
| XM_017016873.2:c.*840_*848del | XP_016872362.1:n.*840_*848del | |
| XM_017016874.1:c.*840_*848del | XP_016872363.1:n.*840_*848del | |
| XM_024448246.1:c.*840_*848del | XP_024304014.1:n.*840_*848del | |
| XM_024448247.1:c.*840_*848del | XP_024304015.1:n.*840_*848del | |
| XR_001747256.1:n.3009_3017del | ||
| NM_033637.4:c.*840_*848del MANE Select | NP_378663.1:n.*840_*848del | |
| NM_003939.5:c.*840_*848del | NP_003930.1:n.*840_*848del | |
| NM_001256856.2:c.*840_*848del | NP_001243785.1:n.*840_*848del |