Linked Data
dbSNP Id:
rs762551366
ExAC:
2:208994471 CT / C
gnomAD v2:
2-208994471-CT-C
gnomAD v3:
2-208129747-CT-C
gnomAD v4:
2-208129747-CT-C
COSMIC:
COSN20062986
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.208129755del , CM000664.2:g.208129755del | GRCh38 |
| NC_000002.11:g.208994479del , CM000664.1:g.208994479del | GRCh37 |
| NC_000002.10:g.208702724del | NCBI36 |
| NG_008038.1:g.5083del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282141.4:c.9+36del MANE Select | ENSP00000282141.3:n.9+36del | |
| ENST00000282141.3:c.9+36del | ENSP00000282141.3:n.9+36del | |
| NM_020989.3:c.9+36del | NP_066269.1:n.9+36del | |
| NR_038437.1:n.98-7301del | ||
| XM_011510661.1:c.9+36del | XP_011508963.1:n.9+36del | |
| XM_011510662.1:c.9+36del | XP_011508964.1:n.9+36del | |
| XM_011510663.1:c.-120-65del | XP_011508965.1:n.-120-65del | |
| NM_020989.4:c.9+36del MANE Select | NP_066269.1:n.9+36del |