Linked Data
dbSNP Id:
rs2099302988
gnomAD v3:
4-186079204-AGGAGAGGTCGGGAGACGG-A
gnomAD v4:
4-186079204-AGGAGAGGTCGGGAGACGG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186079206_186079223del , CM000666.2:g.186079206_186079223del | GRCh38 |
| NC_000004.11:g.187000360_187000377del , CM000666.1:g.187000360_187000377del | GRCh37 |
| NC_000004.10:g.187237354_187237371del | NCBI36 |
| NG_007278.1:g.15052_15069del , LRG_117:g.15052_15069del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000698351.1:c.633+175_633+192del | ENSP00000513674.1:n.633+175_633+192del | |
| ENST00000698352.1:c.*185+175_*185+192del | ENSP00000513675.1:n.*185+175_*185+192del | |
| ENST00000296795.8:c.633+175_633+192del MANE Select | ENSP00000296795.3:n.633+175_633+192del | |
| ENST00000296795.7:c.633+175_633+192del | ENSP00000296795.2:n.633+175_633+192del | |
| ENST00000513189.1:c.633+175_633+192del | ENSP00000423386.1:n.633+175_633+192del | |
| NM_003265.2:c.633+175_633+192del , LRG_117t1:c.633+175_633+192del | NP_003256.1:n.633+175_633+192del | |
| NM_003265.3:c.633+175_633+192del MANE Select | NP_003256.1:n.633+175_633+192del |