UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Linked Data
dbSNP Id:
rs1553400143
gnomAD v3:
2-25161599-C-CGCTGCTGCCGCTGCTGCCGCTGCTGCT
gnomAD v4:
2-25161599-C-CGCTGCTGCCGCTGCTGCCGCTGCTGCT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.25161607_25161608insCGCTGCTGCCGCTGCTGCTGCTGCTGC , CM000664.2:g.25161607_25161608insCGCTGCTGCCGCTGCTGCTGCTGCTGC | GRCh38 |
| NC_000002.11:g.25384476_25384477insCGCTGCTGCCGCTGCTGCTGCTGCTGC , CM000664.1:g.25384476_25384477insCGCTGCTGCCGCTGCTGCTGCTGCTGC | GRCh37 |
| NC_000002.10:g.25237980_25237981insCGCTGCTGCCGCTGCTGCTGCTGCTGC | NCBI36 |
| NG_008997.1:g.12091_12092insAGCAGCAGCGGCAGCAGCGGCAGCAGC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000395826.7:c.285_286insAGCAGCAGCGGCAGCAGCGGCAGCAGC MANE Select | ENSP00000379170.2:p.Ser95_Gly96insSerSerSerGlySerSerGlySerSer... | |
| ENST00000264708.7:c.285_286insAGCAGCAGCGGCAGCAGCGGCAGCAGC | ENSP00000264708.3:p.Ser95_Gly96insSerSerSerGlySerSerGlySerSer... | |
| ENST00000380794.5:c.285_286insAGCAGCAGCGGCAGCAGCGGCAGCAGC | ENSP00000370171.1:p.Ser95_Gly96insSerSerSerGlySerSerGlySerSer... | |
| ENST00000395826.6:c.285_286insAGCAGCAGCGGCAGCAGCGGCAGCAGC | ENSP00000379170.2:p.Ser95_Gly96insSerSerSerGlySerSerGlySerSer... | |
| ENST00000405623.5:c.285_286insAGCAGCAGCGGCAGCAGCGGCAGCAGC | ENSP00000384092.1:p.Ser95_Gly96insSerSerSerGlySerSerGlySerSer... | |
| ENST00000449220.1:c.285_286insAGCAGCAGCGGCAGCAGCGGCAGCAGC | ENSP00000387993.1:p.Ser95_Gly96insSerSerSerGlySerSerGlySerSer... | |
| NM_000939.2:c.285_286insAGCAGCAGCGGCAGCAGCGGCAGCAGC | NP_000930.1:p.Ser95_Gly96insSerSerSerGlySerSerGlySerSer | |
| NM_001035256.1:c.285_286insAGCAGCAGCGGCAGCAGCGGCAGCAGC | NP_001030333.1:p.Ser95_Gly96insSerSerSerGlySerSerGlySerSer | |
| XM_011532917.1:c.285_286insAGCAGCAGCGGCAGCAGCGGCAGCAGC | XP_011531219.1:p.Ser95_Gly96insSerSerSerGlySerSerGlySerSer | |
| NM_000939.3:c.285_286insAGCAGCAGCGGCAGCAGCGGCAGCAGC | NP_000930.1:p.Ser95_Gly96insSerSerSerGlySerSerGlySerSer | |
| NM_001035256.2:c.285_286insAGCAGCAGCGGCAGCAGCGGCAGCAGC | NP_001030333.1:p.Ser95_Gly96insSerSerSerGlySerSerGlySerSer | |
| NM_001319204.1:c.285_286insAGCAGCAGCGGCAGCAGCGGCAGCAGC | NP_001306133.1:p.Ser95_Gly96insSerSerSerGlySerSerGlySerSer | |
| NM_001319205.1:c.285_286insAGCAGCAGCGGCAGCAGCGGCAGCAGC | NP_001306134.1:p.Ser95_Gly96insSerSerSerGlySerSerGlySerSer | |
| NM_000939.4:c.285_286insAGCAGCAGCGGCAGCAGCGGCAGCAGC MANE Select | NP_000930.1:p.Ser95_Gly96insSerSerSerGlySerSerGlySerSer | |
| NM_001319204.2:c.285_286insAGCAGCAGCGGCAGCAGCGGCAGCAGC | NP_001306133.1:p.Ser95_Gly96insSerSerSerGlySerSerGlySerSer | |
| NM_001319205.2:c.285_286insAGCAGCAGCGGCAGCAGCGGCAGCAGC | NP_001306134.1:p.Ser95_Gly96insSerSerSerGlySerSerGlySerSer | |
| NM_001035256.3:c.285_286insAGCAGCAGCGGCAGCAGCGGCAGCAGC | NP_001030333.1:p.Ser95_Gly96insSerSerSerGlySerSerGlySerSer |