Linked Data
gnomAD v4:
1-6112207-CTCG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.6112210_6112212del , CM000663.2:g.6112210_6112212del | GRCh38 |
| NC_000001.10:g.6172270_6172272del , CM000663.1:g.6172270_6172272del | GRCh37 |
| NC_000001.9:g.6094857_6094859del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262450.8:c.5070_5072del MANE Select | ENSP00000262450.3:p.Asp1690del | |
| ENST00000262450.7:c.5070_5072del | ENSP00000262450.3:p.Asp1690del | |
| ENST00000377999.5:c.1973_1975del | ENSP00000367238.2:n.1973_1975del | |
| ENST00000462991.5:c.3323_3325del | ||
| ENST00000496404.1:c.3788_3790del | ENSP00000433676.1:n.3788_3790del | |
| NM_015557.2:c.5070_5072del | NP_056372.1:p.Asp1690del | |
| NM_015557.3:c.5070_5072del MANE Select | NP_056372.1:p.Asp1690del |