Linked Data
dbSNP Id:
rs767128840
gnomAD v2:
X-38535159-TG-T
gnomAD v3:
X-38675905-TG-T
gnomAD v4:
X-38675905-TG-T
COSMIC:
COSN20058394
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38675912del , CM000685.2:g.38675912del | GRCh38 |
| NC_000023.10:g.38535166del , CM000685.1:g.38535166del | GRCh37 |
| NC_000023.9:g.38420110del | NCBI36 |
| NG_009160.1:g.119436del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378482.7:c.597+52del MANE Select | ENSP00000367743.2:n.597+52del | |
| ENST00000286824.6:c.648+52del | ENSP00000286824.6:n.648+52del | |
| ENST00000378482.6:c.597+52del | ENSP00000367743.2:n.597+52del | |
| ENST00000419600.3:n.541+52del | ||
| ENST00000465127.1:c.687+52del | ENSP00000417050.1:n.687+52del | |
| ENST00000471410.5:c.*623+52del | ENSP00000419290.1:n.*623+52del | |
| ENST00000475216.5:c.*590+52del | ENSP00000418586.1:n.*590+52del | |
| NM_004615.3:c.597+52del | NP_004606.2:n.597+52del | |
| NM_004615.4:c.597+52del MANE Select | NP_004606.2:n.597+52del |