Linked Data
dbSNP Id:
rs782079491
ExAC:
X:153599631 CG / C
gnomAD v2:
X-153599631-CG-C
gnomAD v3:
X-154371263-CG-C
gnomAD v4:
X-154371263-CG-C
COSMIC:
COSN18744623
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154371270del , CM000685.2:g.154371270del | GRCh38 |
| NC_000023.10:g.153599638del , CM000685.1:g.153599638del | GRCh37 |
| NC_000023.9:g.153252832del | NCBI36 |
| NG_008677.1:g.1843del , LRG_745:g.1843del | |
| NG_011506.1:g.8375del | |
| NG_011506.2:g.8375del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360319.9:c.-19del | ENSP00000353467.4:n.-19del | |
| ENST00000369850.10:c.-19del MANE Select | ENSP00000358866.3:n.-19del | |
| ENST00000422373.6:c.-19del | ENSP00000416926.2:n.-19del | |
| ENST00000344736.8:c.-19del | ENSP00000358863.3:n.-19del | |
| ENST00000360319.8:c.-19del | ENSP00000353467.4:n.-19del | |
| ENST00000369850.7:c.-19del | ENSP00000358866.3:n.-19del | |
| ENST00000422373.5:c.-19del | ENSP00000416926.1:n.-19del | |
| ENST00000610817.4:c.-100del | ENSP00000480593.1:n.-100del | |
| NM_001110556.1:c.-19del | NP_001104026.1:n.-19del | |
| NM_001456.3:c.-19del | NP_001447.2:n.-19del | |
| XM_011531127.1:c.-19del | XP_011529429.1:n.-19del | |
| XM_011531128.1:c.-19del | XP_011529430.1:n.-19del | |
| XM_011531129.1:c.-19del | XP_011529431.1:n.-19del | |
| XM_011531130.1:c.-19del | XP_011529432.1:n.-19del | |
| XM_011531131.1:c.-19del | XP_011529433.1:n.-19del | |
| NM_001110556.2:c.-19del MANE Select | NP_001104026.1:n.-19del | |
| NM_001456.4:c.-19del | NP_001447.2:n.-19del |