Linked Data
ClinVar Variation Id:
163350
ClinVar RCV Id:
RCV000150618
dbSNP Id:
rs727503015
MyVariant Identifiers:
chr7:g.55242467_55242478delinsCCC (hg19)
chr7:g.55174774_55174785delinsCCC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.55174774_55174785delinsCCC , CM000669.2:g.55174774_55174785delinsCCC | GRCh38 |
| NC_000007.13:g.55242467_55242478delinsCCC , CM000669.1:g.55242467_55242478delinsCCC | GRCh37 |
| NC_000007.12:g.55209961_55209972delinsCCC | NCBI36 |
| NG_007726.3:g.160743_160754delinsCCC , LRG_304:g.160743_160754delinsCCC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000450046.2:c.2078_2089delinsCCC | ENSP00000413354.2:p.Glu693_Ala697delinsAl... | |
| ENST00000700145.1:c.586_597delinsCCC | ||
| ENST00000275493.7:c.2237_2248delinsCCC MANE Select | ENSP00000275493.2:p.Glu746_Ala750delinsAl... | |
| ENST00000275493.6:c.2237_2248delinsCCC | ENSP00000275493.2:p.Glu746_Ala750delinsAl... | |
| ENST00000442591.5:c.*28+1846_*28+1857delinsCCC | ENSP00000410031.1:n.*28+1846_*28+1857deli... | |
| ENST00000454757.6:c.2102_2113delinsCCC | ENSP00000395243.3:p.Glu701_Ala705delinsAl... | |
| ENST00000455089.5:c.2102_2113delinsCCC | ENSP00000415559.1:p.Glu701_Ala705delinsAl... | |
| NM_005228.3:c.2237_2248delinsCCC , LRG_304t1:c.2237_2248delinsCCC | NP_005219.2:p.Glu746_Ala750delinsAlaPro | |
| NM_001346897.1:c.2102_2113delinsCCC | NP_001333826.1:p.Glu701_Ala705delinsAlaPr... | |
| NM_001346898.1:c.2237_2248delinsCCC | NP_001333827.1:p.Glu746_Ala750delinsAlaPr... | |
| NM_001346899.1:c.2102_2113delinsCCC | NP_001333828.1:p.Glu701_Ala705delinsAlaPr... | |
| NM_001346900.1:c.2078_2089delinsCCC | NP_001333829.1:p.Glu693_Ala697delinsAlaPr... | |
| NM_001346941.1:c.1436_1447delinsCCC | NP_001333870.1:p.Glu479_Ala483delinsAlaPr... | |
| NM_005228.4:c.2237_2248delinsCCC | NP_005219.2:p.Glu746_Ala750delinsAlaPro | |
| NM_005228.5:c.2237_2248delinsCCC MANE Select | NP_005219.2:p.Glu746_Ala750delinsAlaPro | |
| NM_001346897.2:c.2102_2113delinsCCC | NP_001333826.1:p.Glu701_Ala705delinsAlaPr... | |
| NM_001346898.2:c.2237_2248delinsCCC | NP_001333827.1:p.Glu746_Ala750delinsAlaPr... | |
| NM_001346900.2:c.2078_2089delinsCCC | NP_001333829.1:p.Glu693_Ala697delinsAlaPr... | |
| NM_001346941.2:c.1436_1447delinsCCC | NP_001333870.1:p.Glu479_Ala483delinsAlaPr... | |
| NM_001346899.2:c.2102_2113delinsCCC | NP_001333828.1:p.Glu701_Ala705delinsAlaPr... |