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 |