Linked Data
dbSNP Id:
rs879761394
gnomAD v2:
3-57263354-CT-C
gnomAD v3:
3-57229326-CT-C
gnomAD v4:
3-57229326-CT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.57229336del , CM000665.2:g.57229336del | GRCh38 |
| NC_000003.11:g.57263364del , CM000665.1:g.57263364del | GRCh37 |
| NC_000003.10:g.57238404del | NCBI36 |
| NG_047003.1:g.6600del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000288266.8:c.54+1399del MANE Select | ENSP00000288266.3:n.54+1399del | |
| ENST00000650354.1:c.54+1399del | ENSP00000498115.1:n.54+1399del | |
| ENST00000288266.7:c.54+1399del | ENSP00000288266.3:n.54+1399del | |
| ENST00000444459.1:c.-51-1378del | ENSP00000406095.1:n.-51-1378del | |
| ENST00000468342.1:n.99+1399del | ||
| ENST00000482800.5:n.149+1399del | ||
| ENST00000495803.5:c.54+1399del | ENSP00000419644.1:n.54+1399del | |
| NM_012096.2:c.54+1399del | NP_036228.1:n.54+1399del | |
| XM_011533583.1:c.-51-1378del | XP_011531885.1:n.-51-1378del | |
| XM_011533583.3:c.-51-1378del | XP_011531885.1:n.-51-1378del | |
| NM_012096.3:c.54+1399del MANE Select | NP_036228.1:n.54+1399del |