Linked Data
ClinVar Variation Id:
2022534
ClinVar RCV Id:
RCV002852556
dbSNP Id:
rs1343339242
gnomAD v4:
2-15218892-GC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.15218894del , CM000664.2:g.15218894del | GRCh38 |
| NC_000002.11:g.15359018del , CM000664.1:g.15359018del | GRCh37 |
| NC_000002.10:g.15276469del | NCBI36 |
| NG_032964.1:g.347456del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700061.1:c.4298del | ||
| ENST00000700062.1:c.4426+13529del | ||
| ENST00000700063.1:c.823del | ||
| ENST00000700064.1:c.2168del | ||
| ENST00000281513.10:c.6312del MANE Select | ENSP00000281513.5:p.Arg2106AlafsTer14 | |
| ENST00000281513.9:c.6312del | ENSP00000281513.5:p.Arg2106AlafsTer14 | |
| ENST00000417461.5:c.512+13529del | ENSP00000392421.1:n.512+13529del | |
| ENST00000442506.5:c.3455del | ||
| NM_015909.3:c.6312del | NP_056993.2:p.Arg2106AlafsTer14 | |
| NR_052013.2:n.6280+13529del | ||
| XM_011510357.1:c.6183del | XP_011508659.1:p.Arg2063AlafsTer14 | |
| XM_011510358.1:c.6312del | XP_011508660.1:p.Arg2106AlafsTer14 | |
| XM_011510359.1:c.5673del | XP_011508661.1:p.Arg1893AlafsTer14 | |
| XM_011510360.1:c.4113del | XP_011508662.1:p.Arg1373AlafsTer14 | |
| XM_011510361.1:c.4104del | XP_011508663.1:p.Arg1370AlafsTer14 | |
| XM_011510357.2:c.6183del | XP_011508659.1:p.Arg2063AlafsTer14 | |
| XM_011510358.2:c.6312del | XP_011508660.1:p.Arg2106AlafsTer14 | |
| XM_011510360.2:c.4113del | XP_011508662.1:p.Arg1373AlafsTer14 | |
| XM_011510361.2:c.4104del | XP_011508663.1:p.Arg1370AlafsTer14 | |
| XM_017004317.1:c.6312del | XP_016859806.1:p.Arg2106AlafsTer14 | |
| XM_024452961.1:c.5673del | XP_024308729.1:p.Arg1893AlafsTer14 | |
| NM_015909.4:c.6312del MANE Select | NP_056993.2:p.Arg2106AlafsTer14 | |
| NR_052013.3:n.6266+13529del |