Linked Data
ClinVar Variation Id:
1637636
ClinVar RCV Id:
RCV002137876
dbSNP Id:
rs1256875071
gnomAD v2:
3-128205221-AAGAG-A
gnomAD v3:
3-128486378-AAGAG-A
gnomAD v4:
3-128486378-AAGAG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.128486385_128486388del , CM000665.2:g.128486385_128486388del | GRCh38 |
| NC_000003.11:g.128205228_128205231del , CM000665.1:g.128205228_128205231del | GRCh37 |
| NC_000003.10:g.129687918_129687921del | NCBI36 |
| NG_029334.1:g.11806_11809del , LRG_295:g.11806_11809del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000487848.6:c.230-14_230-11del MANE Plus Clinical | ENSP00000417074.1:n.230-14_230-11del | |
| ENST00000696466.1:c.512-14_512-11del | ENSP00000512647.1:n.512-14_512-11del | |
| ENST00000341105.7:c.230-14_230-11del MANE Select | ENSP00000345681.2:n.230-14_230-11del | |
| ENST00000341105.6:c.230-14_230-11del | ENSP00000345681.2:n.230-14_230-11del | |
| ENST00000430265.6:c.230-14_230-11del | ENSP00000400259.2:n.230-14_230-11del | |
| ENST00000487848.5:c.230-14_230-11del | ENSP00000417074.1:n.230-14_230-11del | |
| ENST00000492608.1:c.230-14_230-11del | ENSP00000418132.1:n.230-14_230-11del | |
| NM_001145661.1:c.230-14_230-11del , LRG_295t1:c.230-14_230-11del | NP_001139133.1:n.230-14_230-11del | |
| NM_001145662.1:c.230-14_230-11del | NP_001139134.1:n.230-14_230-11del | |
| NM_032638.4:c.230-14_230-11del , LRG_295t2:c.230-14_230-11del | NP_116027.2:n.230-14_230-11del | |
| NM_001145661.2:c.230-14_230-11del MANE Plus Clinical | NP_001139133.1:n.230-14_230-11del | |
| NM_032638.5:c.230-14_230-11del MANE Select | NP_116027.2:n.230-14_230-11del |