Linked Data
dbSNP Id:
rs1428301465
gnomAD v2:
16-31105879-TGGA-T
gnomAD v3:
16-31094558-TGGA-T
gnomAD v4:
16-31094558-TGGA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.31094563_31094565del , CM000678.2:g.31094563_31094565del | GRCh38 |
| NC_000016.9:g.31105884_31105886del , CM000678.1:g.31105884_31105886del | GRCh37 |
| NC_000016.8:g.31013385_31013387del | NCBI36 |
| NG_011564.1:g.5395_5397del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000394975.3:c.169_171del MANE Select | ENSP00000378426.2:p.Ser57del | |
| ENST00000300851.10:c.169_171del | ENSP00000300851.6:p.Ser57del | |
| ENST00000319788.11:c.169_171del | ENSP00000326135.7:p.Ser57del | |
| ENST00000354895.4:c.169_171del | ENSP00000346969.4:p.Ser57del | |
| ENST00000394975.2:c.169_171del | ENSP00000378426.2:p.Ser57del | |
| ENST00000420057.2:c.245+828_245+830del | ||
| ENST00000498155.1:c.270+828_270+830del | ENSP00000417662.1:n.270+828_270+830del | |
| ENST00000529564.1:c.169_171del | ENSP00000431371.1:p.Ser57del | |
| ENST00000532364.1:c.169_171del | ENSP00000460316.1:p.Ser57del | |
| ENST00000533518.5:c.42_44del | ||
| NM_001311311.1:c.169_171del | NP_001298240.1:p.Ser57del | |
| NM_024006.4:c.169_171del | NP_076869.1:p.Ser57del | |
| NM_024006.5:c.169_171del | NP_076869.1:p.Ser57del | |
| NM_206824.1:c.169_171del | NP_996560.1:p.Ser57del | |
| NM_206824.2:c.169_171del | NP_996560.1:p.Ser57del | |
| XM_011545944.1:c.169_171del | XP_011544246.1:p.Ser57del | |
| XM_011545945.1:c.169_171del | XP_011544247.1:p.Ser57del | |
| XR_950848.1:n.957_959del | ||
| NM_024006.6:c.169_171del MANE Select | NP_076869.1:p.Ser57del | |
| NM_001311311.2:c.169_171del | NP_001298240.1:p.Ser57del | |
| NM_206824.3:c.169_171del | NP_996560.1:p.Ser57del |