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:
189567
ClinVar RCV Id:
RCV000170014
dbSNP Id:
rs786204975
PubMed:
PMID:22430159
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.18604778del , CM000685.2:g.18604778del | GRCh38 |
| NC_000023.10:g.18622898del , CM000685.1:g.18622898del | GRCh37 |
| NC_000023.9:g.18532819del | NCBI36 |
| NG_008475.1:g.184174del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000623535.2:c.1854del MANE Select | ENSP00000485244.1:p.Asp618GlufsTer3 | |
| ENST00000635828.1:c.1854del | ENSP00000490170.1:p.Asp618GlufsTer3 | |
| ENST00000674046.1:c.1854del | ENSP00000501174.1:p.Asp618GlufsTer3 | |
| ENST00000379989.6:c.1854del | ENSP00000369325.3:p.Asp618GlufsTer3 | |
| ENST00000379996.7:c.1854del | ENSP00000369332.3:p.Asp618GlufsTer3 | |
| ENST00000463994.4:c.1854del | ENSP00000485184.1:p.Asp618GlufsTer3 | |
| ENST00000623535.1:c.1854del | ENSP00000485244.1:p.Asp618GlufsTer3 | |
| NM_001037343.1:c.1854del | NP_001032420.1:p.Asp618GlufsTer3 | |
| NM_003159.2:c.1854del | NP_003150.1:p.Asp618GlufsTer3 | |
| XM_011545569.1:c.1803del | XP_011543871.1:p.Asp601GlufsTer3 | |
| XM_011545570.1:c.1722del | XP_011543872.1:p.Asp574GlufsTer3 | |
| XR_950484.1:n.2106del | ||
| NM_001323289.1:c.1854del | NP_001310218.1:p.Asp618GlufsTer3 | |
| NM_001323289.2:c.1854del MANE Select | NP_001310218.1:p.Asp618GlufsTer3 | |
| NM_001037343.2:c.1854del | NP_001032420.1:p.Asp618GlufsTer3 | |
| NM_003159.3:c.1854del | NP_003150.1:p.Asp618GlufsTer3 |