Linked Data
dbSNP Id:
rs1278525191
gnomAD v2:
3-128200035-TCTC-T
gnomAD v3:
3-128481192-TCTC-T
gnomAD v4:
3-128481192-TCTC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.128481195_128481197del , CM000665.2:g.128481195_128481197del | GRCh38 |
| NC_000003.11:g.128200038_128200040del , CM000665.1:g.128200038_128200040del | GRCh37 |
| NC_000003.10:g.129682728_129682730del | NCBI36 |
| NG_029334.1:g.16993_16995del , LRG_295:g.16993_16995del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000487848.6:c.1267_1269del MANE Plus Clinical | ENSP00000417074.1:p.Glu423del | |
| ENST00000696466.1:c.1549_1551del | ENSP00000512647.1:p.Glu517del | |
| ENST00000696672.1:c.242_244del | ENSP00000512796.1:p.Gly81del | |
| ENST00000341105.7:c.1267_1269del MANE Select | ENSP00000345681.2:p.Glu423del | |
| ENST00000341105.6:c.1267_1269del | ENSP00000345681.2:p.Glu423del | |
| ENST00000430265.6:c.1225_1227del | ENSP00000400259.2:p.Glu409del | |
| ENST00000487848.5:c.1267_1269del | ENSP00000417074.1:p.Glu423del | |
| ENST00000489987.1:n.384_386del | ||
| NM_001145661.1:c.1267_1269del , LRG_295t1:c.1267_1269del | NP_001139133.1:p.Glu423del | |
| NM_001145662.1:c.1225_1227del | NP_001139134.1:p.Glu409del | |
| NM_032638.4:c.1267_1269del , LRG_295t2:c.1267_1269del | NP_116027.2:p.Glu423del | |
| NM_001145661.2:c.1267_1269del MANE Plus Clinical | NP_001139133.1:p.Glu423del | |
| NM_032638.5:c.1267_1269del MANE Select | NP_116027.2:p.Glu423del |