Linked Data
ClinVar Variation Id:
177652
ClinVar RCV Id:
RCV000154239
dbSNP Id:
rs727504258
MyVariant Identifiers:
chr7:g.55242467_55242485delinsT (hg19)
chr7:g.55174774_55174792delinsT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.55174774_55174792delinsT , CM000669.2:g.55174774_55174792delinsT | GRCh38 |
| NC_000007.13:g.55242467_55242485delinsT , CM000669.1:g.55242467_55242485delinsT | GRCh37 |
| NC_000007.12:g.55209961_55209979delinsT | NCBI36 |
| NG_007726.3:g.160743_160761delinsT , LRG_304:g.160743_160761delinsT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000450046.2:c.2078_2096delinsT | ENSP00000413354.2:p.Glu693_Ser699delinsVa... | |
| ENST00000700145.1:c.586_604delinsT | ||
| ENST00000275493.7:c.2237_2255delinsT MANE Select | ENSP00000275493.2:p.Glu746_Ser752delinsVa... | |
| ENST00000275493.6:c.2237_2255delinsT | ENSP00000275493.2:p.Glu746_Ser752delinsVa... | |
| ENST00000442591.5:c.*28+1846_*28+1864delinsT | ENSP00000410031.1:n.*28+1846_*28+1864deli... | |
| ENST00000454757.6:c.2102_2120delinsT | ENSP00000395243.3:p.Glu701_Ser707delinsVa... | |
| ENST00000455089.5:c.2102_2120delinsT | ENSP00000415559.1:p.Glu701_Ser707delinsVa... | |
| NM_005228.3:c.2237_2255delinsT , LRG_304t1:c.2237_2255delinsT | NP_005219.2:p.Glu746_Ser752delinsVal | |
| NM_001346897.1:c.2102_2120delinsT | NP_001333826.1:p.Glu701_Ser707delinsVal | |
| NM_001346898.1:c.2237_2255delinsT | NP_001333827.1:p.Glu746_Ser752delinsVal | |
| NM_001346899.1:c.2102_2120delinsT | NP_001333828.1:p.Glu701_Ser707delinsVal | |
| NM_001346900.1:c.2078_2096delinsT | NP_001333829.1:p.Glu693_Ser699delinsVal | |
| NM_001346941.1:c.1436_1454delinsT | NP_001333870.1:p.Glu479_Ser485delinsVal | |
| NM_005228.4:c.2237_2255delinsT | NP_005219.2:p.Glu746_Ser752delinsVal | |
| NM_005228.5:c.2237_2255delinsT MANE Select | NP_005219.2:p.Glu746_Ser752delinsVal | |
| NM_001346897.2:c.2102_2120delinsT | NP_001333826.1:p.Glu701_Ser707delinsVal | |
| NM_001346898.2:c.2237_2255delinsT | NP_001333827.1:p.Glu746_Ser752delinsVal | |
| NM_001346900.2:c.2078_2096delinsT | NP_001333829.1:p.Glu693_Ser699delinsVal | |
| NM_001346941.2:c.1436_1454delinsT | NP_001333870.1:p.Glu479_Ser485delinsVal | |
| NM_001346899.2:c.2102_2120delinsT | NP_001333828.1:p.Glu701_Ser707delinsVal |