Linked Data
dbSNP Id:
rs915602283
gnomAD v2:
4-120241804-CA-C
gnomAD v3:
4-119320649-CA-C
gnomAD v4:
4-119320649-CA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.119320650del , CM000666.2:g.119320650del | GRCh38 |
| NC_000004.11:g.120241805del , CM000666.1:g.120241805del | GRCh37 |
| NC_000004.10:g.120461253del | NCBI36 |
| NG_011444.1:g.6512del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000274024.4:c.240+20del MANE Select | ENSP00000274024.3:n.240+20del | |
| ENST00000274024.3:c.240+20del | ENSP00000274024.3:n.240+20del | |
| NM_000134.3:c.240+20del | NP_000125.2:n.240+20del | |
| NM_000134.4:c.240+20del MANE Select | NP_000125.2:n.240+20del |