Linked Data
ClinVar Variation Id:
177690
ClinVar RCV Id:
RCV000154289
dbSNP Id:
rs727504281
COSMIC:
COSM13550
MyVariant Identifiers:
chr7:g.55242465_55242478delinsAATTC (hg19)
chr7:g.55174772_55174785delinsAATTC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.55174772_55174785delinsAATTC , CM000669.2:g.55174772_55174785delinsAATTC | GRCh38 |
| NC_000007.13:g.55242465_55242478delinsAATTC , CM000669.1:g.55242465_55242478delinsAATTC | GRCh37 |
| NC_000007.12:g.55209959_55209972delinsAATTC | NCBI36 |
| NG_007726.3:g.160741_160754delinsAATTC , LRG_304:g.160741_160754delinsAATTC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000450046.2:c.2076_2089delinsAATTC | ENSP00000413354.2:p.Glu693_Ala697delinsIl... | |
| ENST00000700145.1:c.584_597delinsAATTC | ||
| ENST00000275493.7:c.2235_2248delinsAATTC MANE Select | ENSP00000275493.2:p.Glu746_Ala750delinsIl... | |
| ENST00000275493.6:c.2235_2248delinsAATTC | ENSP00000275493.2:p.Glu746_Ala750delinsIl... | |
| ENST00000442591.5:c.*28+1844_*28+1857delinsAATTC | ENSP00000410031.1:n.*28+1844_*28+1857deli... | |
| ENST00000454757.6:c.2100_2113delinsAATTC | ENSP00000395243.3:p.Glu701_Ala705delinsIl... | |
| ENST00000455089.5:c.2100_2113delinsAATTC | ENSP00000415559.1:p.Glu701_Ala705delinsIl... | |
| NM_005228.3:c.2235_2248delinsAATTC , LRG_304t1:c.2235_2248delinsAATTC | NP_005219.2:p.Glu746_Ala750delinsIlePro | |
| NM_001346897.1:c.2100_2113delinsAATTC | NP_001333826.1:p.Glu701_Ala705delinsIlePr... | |
| NM_001346898.1:c.2235_2248delinsAATTC | NP_001333827.1:p.Glu746_Ala750delinsIlePr... | |
| NM_001346899.1:c.2100_2113delinsAATTC | NP_001333828.1:p.Glu701_Ala705delinsIlePr... | |
| NM_001346900.1:c.2076_2089delinsAATTC | NP_001333829.1:p.Glu693_Ala697delinsIlePr... | |
| NM_001346941.1:c.1434_1447delinsAATTC | NP_001333870.1:p.Glu479_Ala483delinsIlePr... | |
| NM_005228.4:c.2235_2248delinsAATTC | NP_005219.2:p.Glu746_Ala750delinsIlePro | |
| NM_005228.5:c.2235_2248delinsAATTC MANE Select | NP_005219.2:p.Glu746_Ala750delinsIlePro | |
| NM_001346897.2:c.2100_2113delinsAATTC | NP_001333826.1:p.Glu701_Ala705delinsIlePr... | |
| NM_001346898.2:c.2235_2248delinsAATTC | NP_001333827.1:p.Glu746_Ala750delinsIlePr... | |
| NM_001346900.2:c.2076_2089delinsAATTC | NP_001333829.1:p.Glu693_Ala697delinsIlePr... | |
| NM_001346941.2:c.1434_1447delinsAATTC | NP_001333870.1:p.Glu479_Ala483delinsIlePr... | |
| NM_001346899.2:c.2100_2113delinsAATTC | NP_001333828.1:p.Glu701_Ala705delinsIlePr... |