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:
rs2128954759
COSMIC:
COSM12416
MyVariant Identifiers:
chr7:g.55242467_55242483delinsTTGCT (hg19)
CIViC:
CA645561515
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.55174774_55174790delinsTTGCT , CM000669.2:g.55174774_55174790delinsTTGCT | GRCh38 |
| NC_000007.13:g.55242467_55242483delinsTTGCT , CM000669.1:g.55242467_55242483delinsTTGCT | GRCh37 |
| NC_000007.12:g.55209961_55209977delinsTTGCT | NCBI36 |
| NG_007726.3:g.160743_160759delinsTTGCT , LRG_304:g.160743_160759delinsTTGCT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000450046.2:c.2078_2094delinsTTGCT | ENSP00000413354.2:p.Glu693_Thr698delinsVa... | |
| ENST00000700145.1:c.586_602delinsTTGCT | ||
| ENST00000275493.7:c.2237_2253delinsTTGCT MANE Select | ENSP00000275493.2:p.Glu746_Thr751delinsVa... | |
| ENST00000275493.6:c.2237_2253delinsTTGCT | ENSP00000275493.2:p.Glu746_Thr751delinsVa... | |
| ENST00000442591.5:c.*28+1846_*28+1862delinsTTGCT | ENSP00000410031.1:n.*28+1846_*28+1862deli... | |
| ENST00000454757.6:c.2102_2118delinsTTGCT | ENSP00000395243.3:p.Glu701_Thr706delinsVa... | |
| ENST00000455089.5:c.2102_2118delinsTTGCT | ENSP00000415559.1:p.Glu701_Thr706delinsVa... | |
| NM_005228.3:c.2237_2253delinsTTGCT , LRG_304t1:c.2237_2253delinsTTGCT | NP_005219.2:p.Glu746_Thr751delinsValAla | |
| NM_001346897.1:c.2102_2118delinsTTGCT | NP_001333826.1:p.Glu701_Thr706delinsValAl... | |
| NM_001346898.1:c.2237_2253delinsTTGCT | NP_001333827.1:p.Glu746_Thr751delinsValAl... | |
| NM_001346899.1:c.2102_2118delinsTTGCT | NP_001333828.1:p.Glu701_Thr706delinsValAl... | |
| NM_001346900.1:c.2078_2094delinsTTGCT | NP_001333829.1:p.Glu693_Thr698delinsValAl... | |
| NM_001346941.1:c.1436_1452delinsTTGCT | NP_001333870.1:p.Glu479_Thr484delinsValAl... | |
| NM_005228.4:c.2237_2253delinsTTGCT | NP_005219.2:p.Glu746_Thr751delinsValAla | |
| NM_005228.5:c.2237_2253delinsTTGCT MANE Select | NP_005219.2:p.Glu746_Thr751delinsValAla | |
| NM_001346897.2:c.2102_2118delinsTTGCT | NP_001333826.1:p.Glu701_Thr706delinsValAl... | |
| NM_001346898.2:c.2237_2253delinsTTGCT | NP_001333827.1:p.Glu746_Thr751delinsValAl... | |
| NM_001346900.2:c.2078_2094delinsTTGCT | NP_001333829.1:p.Glu693_Thr698delinsValAl... | |
| NM_001346941.2:c.1436_1452delinsTTGCT | NP_001333870.1:p.Glu479_Thr484delinsValAl... | |
| NM_001346899.2:c.2102_2118delinsTTGCT | NP_001333828.1:p.Glu701_Thr706delinsValAl... |