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:
rs748123571
ExAC:
1:41249994 C / CT
gnomAD v2:
1-41249994-C-CT
gnomAD v4:
1-40784322-C-CT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40784322_40784323insT , CM000663.2:g.40784322_40784323insT | GRCh38 |
| NC_000001.10:g.41249994_41249995insT , CM000663.1:g.41249994_41249995insT | GRCh37 |
| NC_000001.9:g.41022581_41022582insT | NCBI36 |
| NG_008139.1:g.5311_5312insT | |
| NG_008139.2:g.5311_5312insT | |
| NG_008139.3:g.5536_5537insT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000347132.10:c.229_230insT MANE Select | ENSP00000262916.6:p.His77LeufsTer? | |
| ENST00000347132.9:c.229_230insT | ENSP00000262916.6:p.His77LeufsTer? | |
| ENST00000509682.6:c.229_230insT | ENSP00000423756.2:p.His77LeufsTer? | |
| NM_004700.3:c.229_230insT | NP_004691.2:p.His77LeufsTer? | |
| NM_172163.2:c.229_230insT | NP_751895.1:p.His77LeufsTer? | |
| XM_011542417.1:c.229_230insT | XP_011540719.1:p.His77LeufsTer? | |
| XM_011542418.1:c.229_230insT | XP_011540720.1:p.His77LeufsTer? | |
| XM_011542419.1:c.229_230insT | XP_011540721.1:p.His77LeufsTer? | |
| XM_011542420.1:c.229_230insT | XP_011540722.1:p.His77LeufsTer? | |
| XR_946798.1:n.235_236insT | ||
| XR_946799.1:n.235_236insT | ||
| XR_946800.1:n.235_236insT | ||
| NM_004700.4:c.229_230insT MANE Select | NP_004691.2:p.His77LeufsTer? | |
| NM_172163.3:c.229_230insT | NP_751895.1:p.His77LeufsTer? |