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
ClinVar Variation Id:
224596
ClinVar RCV Id:
RCV000210210
dbSNP Id:
rs776026092
ExAC:
5:492045 TAGA / T
gnomAD v2:
5-492045-TAGA-T
gnomAD v3:
5-491930-TAGA-T
gnomAD v4:
5-491930-TAGA-T
PubMed:
PMID:26358773
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.491940_491942del , CM000667.2:g.491940_491942del | GRCh38 |
| NC_000005.9:g.492055_492057del , CM000667.1:g.492055_492057del | GRCh37 |
| NC_000005.8:g.545055_545057del | NCBI36 |
| NG_046804.1:g.83496_83498del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264938.8:c.350_352del MANE Select | ENSP00000264938.3:p.Phe117del | |
| ENST00000644203.1:c.350_352del | ENSP00000495903.1:p.Phe117del | |
| ENST00000264938.7:c.350_352del | ENSP00000264938.3:p.Phe117del | |
| ENST00000514375.1:c.350_352del | ENSP00000422983.1:p.Phe117del | |
| NM_001284351.1:c.350_352del | NP_001271280.1:p.Phe117del | |
| NM_004174.2:c.350_352del | NP_004165.2:p.Phe117del | |
| XM_011514095.1:c.356_358del | XP_011512397.1:p.Phe119del | |
| XM_011514096.1:c.350_352del | XP_011512398.1:p.Phe117del | |
| XM_011514097.1:c.356_358del | XP_011512399.1:p.Phe119del | |
| XM_011514098.1:c.356_358del | XP_011512400.1:p.Phe119del | |
| NM_001284351.2:c.350_352del | NP_001271280.1:p.Phe117del | |
| NM_004174.3:c.350_352del | NP_004165.2:p.Phe117del | |
| NM_001284351.3:c.350_352del | NP_001271280.1:p.Phe117del | |
| NM_004174.4:c.350_352del MANE Select | NP_004165.2:p.Phe117del |