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:
120278
ClinVar RCV Id:
RCV000106359
dbSNP Id:
rs281865433
MyVariant Identifiers:
chr12:g.103249072_103249073delinsAA (hg19)
chr12:g.102855294_102855295delinsAA (hg38)
ERepo:
CA267658/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102855294_102855295delinsAA , CM000674.2:g.102855294_102855295delinsAA | GRCh38 |
| NC_000012.11:g.103249072_103249073delinsAA , CM000674.1:g.103249072_103249073delinsAA | GRCh37 |
| NC_000012.10:g.101773202_101773203delinsAA | NCBI36 |
| NG_008690.1:g.67308_67309delinsTT | |
| NG_008690.2:g.108116_108117delinsTT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000553106.6:c.547_548delinsTT MANE Select | ENSP00000448059.1:p.Glu183Leu | |
| ENST00000307000.7:c.532_533delinsTT | ENSP00000303500.2:p.Glu178Leu | |
| ENST00000549111.5:n.643_644delinsTT | ||
| ENST00000551988.5:n.568_569delinsTT | ||
| ENST00000553106.5:c.547_548delinsTT | ENSP00000448059.1:p.Glu183Leu | |
| NM_000277.1:c.547_548delinsTT | NP_000268.1:p.Glu183Leu | |
| XM_011538422.1:c.547_548delinsTT | XP_011536724.1:p.Glu183Leu | |
| NM_000277.2:c.547_548delinsTT | NP_000268.1:p.Glu183Leu | |
| NM_001354304.1:c.547_548delinsTT | NP_001341233.1:p.Glu183Leu | |
| XM_017019370.2:c.547_548delinsTT | XP_016874859.1:p.Glu183Leu | |
| NM_000277.3:c.547_548delinsTT MANE Select | NP_000268.1:p.Glu183Leu | |
| NM_001354304.2:c.547_548delinsTT | NP_001341233.1:p.Glu183Leu |