Linked Data
ClinVar Variation Id:
177721
ClinVar RCV Id:
RCV000154328
dbSNP Id:
rs121913422
COSMIC:
COSM12367
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.55174774_55174791del , CM000669.2:g.55174774_55174791del | GRCh38 |
| NC_000007.13:g.55242467_55242484del , CM000669.1:g.55242467_55242484del | GRCh37 |
| NC_000007.12:g.55209961_55209978del | NCBI36 |
| NG_007726.3:g.160743_160760del , LRG_304:g.160743_160760del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000450046.2:c.2078_2095del | ENSP00000413354.2:p.Glu693_Ser699delinsAl... | |
| ENST00000700145.1:c.586_603del | ||
| ENST00000275493.7:c.2237_2254del MANE Select | ENSP00000275493.2:p.Glu746_Ser752delinsAl... | |
| ENST00000275493.6:c.2237_2254del | ENSP00000275493.2:p.Glu746_Ser752delinsAl... | |
| ENST00000442591.5:c.*28+1846_*28+1863del | ENSP00000410031.1:n.*28+1846_*28+1863del | |
| ENST00000454757.6:c.2102_2119del | ENSP00000395243.3:p.Glu701_Ser707delinsAl... | |
| ENST00000455089.5:c.2102_2119del | ENSP00000415559.1:p.Glu701_Ser707delinsAl... | |
| NM_005228.3:c.2237_2254del , LRG_304t1:c.2237_2254del | NP_005219.2:p.Glu746_Ser752delinsAla | |
| NM_001346897.1:c.2102_2119del | NP_001333826.1:p.Glu701_Ser707delinsAla | |
| NM_001346898.1:c.2237_2254del | NP_001333827.1:p.Glu746_Ser752delinsAla | |
| NM_001346899.1:c.2102_2119del | NP_001333828.1:p.Glu701_Ser707delinsAla | |
| NM_001346900.1:c.2078_2095del | NP_001333829.1:p.Glu693_Ser699delinsAla | |
| NM_001346941.1:c.1436_1453del | NP_001333870.1:p.Glu479_Ser485delinsAla | |
| NM_005228.4:c.2237_2254del | NP_005219.2:p.Glu746_Ser752delinsAla | |
| NM_005228.5:c.2237_2254del MANE Select | NP_005219.2:p.Glu746_Ser752delinsAla | |
| NM_001346897.2:c.2102_2119del | NP_001333826.1:p.Glu701_Ser707delinsAla | |
| NM_001346898.2:c.2237_2254del | NP_001333827.1:p.Glu746_Ser752delinsAla | |
| NM_001346900.2:c.2078_2095del | NP_001333829.1:p.Glu693_Ser699delinsAla | |
| NM_001346941.2:c.1436_1453del | NP_001333870.1:p.Glu479_Ser485delinsAla | |
| NM_001346899.2:c.2102_2119del | NP_001333828.1:p.Glu701_Ser707delinsAla |