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:
18444
ClinVar RCV Id:
RCV000007940
dbSNP Id:
rs587776662
PubMed:
PMID:18445675
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.180266436dup , CM000663.2:g.180266436dup | GRCh38 |
| NC_000001.10:g.180235571dup , CM000663.1:g.180235571dup | GRCh37 |
| NC_000001.9:g.178502194dup | NCBI36 |
| NG_008081.1:g.41130dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000263726.4:c.293dup MANE Select | ENSP00000263726.2:p.Thr99AsnfsTer? | |
| ENST00000263726.3:c.293dup | ENSP00000263726.2:p.Thr99AsnfsTer? | |
| ENST00000561113.1:c.230dup | ||
| NM_033343.3:c.293dup | NP_203129.1:p.Thr99AsnfsTer? | |
| XM_011510105.1:c.110dup | XP_011508407.1:p.Thr38AsnfsTer? | |
| XM_011510106.1:c.110dup | XP_011508408.1:p.Thr38AsnfsTer? | |
| XM_011510107.1:c.68dup | XP_011508409.1:p.Thr24AsnfsTer? | |
| XM_011510108.1:c.68dup | XP_011508410.1:p.Thr24AsnfsTer? | |
| XM_011510105.2:c.110dup | XP_011508407.1:p.Thr38AsnfsTer? | |
| XM_011510106.3:c.110dup | XP_011508408.1:p.Thr38AsnfsTer? | |
| XM_011510108.2:c.68dup | XP_011508410.1:p.Thr24AsnfsTer? | |
| XM_017002755.1:c.68dup | XP_016858244.1:p.Thr24AsnfsTer? | |
| NM_033343.4:c.293dup MANE Select | NP_203129.1:p.Thr99AsnfsTer? |