Linked Data
dbSNP Id:
rs1057519591
gnomAD v4:
11-1757339-GAGA-G
COSMIC:
COSM5050707
PubMed:
PMID:16685649
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.1757343_1757345del , CM000673.2:g.1757343_1757345del | GRCh38 |
| NC_000011.9:g.1778573_1778575del , CM000673.1:g.1778573_1778575del | GRCh37 |
| NC_000011.8:g.1735149_1735151del | NCBI36 |
| NG_008655.1:g.11651_11653del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000236671.7:c.686_688del MANE Select | ENSP00000236671.2:p.Phe229del | |
| ENST00000367196.4:c.581_583del | ENSP00000356164.4:p.Phe194del | |
| ENST00000427721.3:c.111_113del | ||
| ENST00000429746.2:c.581_583del | ENSP00000402586.2:p.Phe194del | |
| ENST00000433655.6:c.686_688del | ENSP00000404902.1:p.Phe229del | |
| ENST00000438213.6:c.686_688del | ENSP00000415036.2:p.Phe229del | |
| ENST00000636397.1:c.686_688del | ENSP00000489910.1:p.Phe229del | |
| ENST00000636571.1:c.665_667del | ENSP00000490770.1:p.Phe222del | |
| ENST00000636615.1:c.686_688del | ENSP00000490014.1:p.Phe229del | |
| ENST00000636843.1:c.680_682del | ENSP00000490897.1:p.Phe227del | |
| ENST00000637158.1:n.284_286del | ||
| ENST00000637381.2:n.3114_3116del | ||
| ENST00000637387.1:c.686_688del | ENSP00000490598.1:p.Phe229del | |
| ENST00000637815.2:c.686_688del | ENSP00000490344.1:p.Phe229del | |
| ENST00000637915.1:c.686_688del | ENSP00000490471.1:p.Phe229del | |
| ENST00000678991.1:c.*547_*549del | ENSP00000503019.1:n.*547_*549del | |
| ENST00000236671.6:c.686_688del | ENSP00000236671.2:p.Phe229del | |
| ENST00000367196.3:c.581_583del | ENSP00000356164.3:p.Phe194del | |
| ENST00000427721.2:c.86_88del | ENSP00000415840.2:p.Phe29del | |
| ENST00000433655.5:c.686_688del | ENSP00000404902.1:p.Phe229del | |
| ENST00000438213.5:c.641_643del | ENSP00000415036.1:p.Phe214del | |
| NM_001909.4:c.686_688del | NP_001900.1:p.Phe229del | |
| NM_001909.5:c.686_688del MANE Select | NP_001900.1:p.Phe229del |