Linked Data
ClinVar Variation Id:
553302
ClinVar RCV Id:
RCV000668717
dbSNP Id:
rs1383825118
gnomAD v2:
12-109994924-AAG-A
gnomAD v3:
12-109557119-AAG-A
gnomAD v4:
12-109557119-AAG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.109557123_109557124del , CM000674.2:g.109557123_109557124del | GRCh38 |
| NC_000012.11:g.109994928_109994929del , CM000674.1:g.109994928_109994929del | GRCh37 |
| NC_000012.10:g.108479311_108479312del | NCBI36 |
| NG_007096.1:g.21377_21378del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545712.7:c.660_661del MANE Select | ENSP00000445920.1:p.Phe221HisfsTer21 | |
| ENST00000537496.5:c.*225_*226del | ENSP00000444793.1:n.*225_*226del | |
| ENST00000540016.5:c.504_505del | ENSP00000474582.1:p.Phe169HisfsTer21 | |
| ENST00000541763.6:c.885_886del | ENSP00000474981.1:n.885_886del | |
| ENST00000544051.5:c.*541_*542del | ENSP00000438079.1:n.*541_*542del | |
| ENST00000545712.6:c.660_661del | ENSP00000445920.1:p.Phe221HisfsTer21 | |
| NM_052845.3:c.660_661del | NP_443077.1:p.Phe221HisfsTer21 | |
| NR_038118.1:n.820_821del | ||
| XM_011538266.1:c.*7_*8del | XP_011536568.1:n.*7_*8del | |
| XM_011538267.1:c.*7_*8del | XP_011536569.1:n.*7_*8del | |
| XM_011538268.1:c.387_388del | XP_011536570.1:p.Phe130HisfsTer21 | |
| XM_011538269.1:c.384_385del | XP_011536571.1:p.Phe129HisfsTer21 | |
| XM_011538267.3:c.*7_*8del | XP_011536569.1:n.*7_*8del | |
| XM_011538268.2:c.387_388del | XP_011536570.1:p.Phe130HisfsTer21 | |
| XM_011538269.2:c.384_385del | XP_011536571.1:p.Phe129HisfsTer21 | |
| NM_052845.4:c.660_661del MANE Select | NP_443077.1:p.Phe221HisfsTer21 | |
| NR_038118.2:n.771_772del |