Linked Data
dbSNP Id:
rs752229795
ExAC:
4:120241806 TA / T
gnomAD v2:
4-120241806-TA-T
gnomAD v3:
4-119320651-TA-T
gnomAD v4:
4-119320651-TA-T
COSMIC:
COSN20064987
MyVariant Identifiers:
chr4:g.120241809del (hg19)
chr4:g.120241807del (hg19)
chr4:g.119320654del (hg38)
chr4:g.119320652del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.119320662del , CM000666.2:g.119320662del | GRCh38 |
| NC_000004.11:g.120241817del , CM000666.1:g.120241817del | GRCh37 |
| NC_000004.10:g.120461265del | NCBI36 |
| NG_011444.1:g.6510del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000274024.4:c.240+18del MANE Select | ENSP00000274024.3:n.240+18del | |
| ENST00000274024.3:c.240+18del | ENSP00000274024.3:n.240+18del | |
| NM_000134.3:c.240+18del | NP_000125.2:n.240+18del | |
| NM_000134.4:c.240+18del MANE Select | NP_000125.2:n.240+18del |