Linked Data
dbSNP Id:
rs1285766535
gnomAD v2:
2-26698833-GAGTCCGCTGCTGTCGGCGGCAA-G
gnomAD v4:
2-26475965-GAGTCCGCTGCTGTCGGCGGCAA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26475968_26475989del , CM000664.2:g.26475968_26475989del | GRCh38 |
| NC_000002.11:g.26698836_26698857del , CM000664.1:g.26698836_26698857del | GRCh37 |
| NC_000002.10:g.26552340_26552361del | NCBI36 |
| NG_009937.1:g.87712_87733del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000272371.7:c.2918_2939del MANE Select | ENSP00000272371.2:p.Phe973SerfsTer20 | |
| ENST00000339598.8:c.677_698del MANE Plus Clinical | ENSP00000344521.3:p.Phe226SerfsTer20 | |
| ENST00000402415.8:c.677_698del | ENSP00000383906.4:p.Phe226SerfsTer20 | |
| ENST00000272371.6:c.2918_2939del | ENSP00000272371.2:p.Phe973SerfsTer20 | |
| ENST00000338581.10:c.677_698del | ENSP00000345137.6:p.Phe226SerfsTer20 | |
| ENST00000339598.7:c.677_698del | ENSP00000344521.3:p.Phe226SerfsTer20 | |
| ENST00000402415.7:c.848_869del | ENSP00000383906.3:p.Phe283SerfsTer20 | |
| ENST00000403946.7:c.2918_2939del | ENSP00000385255.3:p.Phe973SerfsTer20 | |
| NM_001287489.1:c.2918_2939del | NP_001274418.1:p.Phe973SerfsTer20 | |
| NM_004802.3:c.677_698del | NP_004793.2:p.Phe226SerfsTer20 | |
| NM_194248.2:c.2918_2939del | NP_919224.1:p.Phe973SerfsTer20 | |
| NM_194322.2:c.848_869del | NP_919303.1:p.Phe283SerfsTer20 | |
| NM_194323.2:c.677_698del | NP_919304.1:p.Phe226SerfsTer20 | |
| XM_005264644.2:c.2963_2984del | XP_005264701.1:p.Phe988SerfsTer20 | |
| XM_011533185.1:c.2963_2984del | XP_011531487.1:p.Phe988SerfsTer20 | |
| XM_017005338.1:c.2918_2939del | XP_016860827.1:p.Phe973SerfsTer20 | |
| NM_001287489.2:c.2918_2939del | NP_001274418.1:p.Phe973SerfsTer20 | |
| NM_004802.4:c.677_698del | NP_004793.2:p.Phe226SerfsTer20 | |
| NM_194248.3:c.2918_2939del MANE Select | NP_919224.1:p.Phe973SerfsTer20 | |
| NM_194322.3:c.848_869del | NP_919303.1:p.Phe283SerfsTer20 | |
| NM_194323.3:c.677_698del MANE Plus Clinical | NP_919304.1:p.Phe226SerfsTer20 |