Linked Data
ClinVar Variation Id:
177933
ClinVar RCV Id:
RCV000154593
dbSNP Id:
rs121913435
COSMIC:
COSM12422
MyVariant Identifiers:
chr7:g.55242468_55242478delinsGC (hg19)
chr7:g.55174775_55174785delinsGC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.55174775_55174785delinsGC , CM000669.2:g.55174775_55174785delinsGC | GRCh38 |
| NC_000007.13:g.55242468_55242478delinsGC , CM000669.1:g.55242468_55242478delinsGC | GRCh37 |
| NC_000007.12:g.55209962_55209972delinsGC | NCBI36 |
| NG_007726.3:g.160744_160754delinsGC , LRG_304:g.160744_160754delinsGC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000450046.2:c.2079_2089delinsGC | ENSP00000413354.2:p.Leu694_Ala697delinsPr... | |
| ENST00000700145.1:c.587_597delinsGC | ||
| ENST00000275493.7:c.2238_2248delinsGC MANE Select | ENSP00000275493.2:p.Leu747_Ala750delinsPr... | |
| ENST00000275493.6:c.2238_2248delinsGC | ENSP00000275493.2:p.Leu747_Ala750delinsPr... | |
| ENST00000442591.5:c.*28+1847_*28+1857delinsGC | ENSP00000410031.1:n.*28+1847_*28+1857deli... | |
| ENST00000454757.6:c.2103_2113delinsGC | ENSP00000395243.3:p.Leu702_Ala705delinsPr... | |
| ENST00000455089.5:c.2103_2113delinsGC | ENSP00000415559.1:p.Leu702_Ala705delinsPr... | |
| NM_005228.3:c.2238_2248delinsGC , LRG_304t1:c.2238_2248delinsGC | NP_005219.2:p.Leu747_Ala750delinsPro | |
| NM_001346897.1:c.2103_2113delinsGC | NP_001333826.1:p.Leu702_Ala705delinsPro | |
| NM_001346898.1:c.2238_2248delinsGC | NP_001333827.1:p.Leu747_Ala750delinsPro | |
| NM_001346899.1:c.2103_2113delinsGC | NP_001333828.1:p.Leu702_Ala705delinsPro | |
| NM_001346900.1:c.2079_2089delinsGC | NP_001333829.1:p.Leu694_Ala697delinsPro | |
| NM_001346941.1:c.1437_1447delinsGC | NP_001333870.1:p.Leu480_Ala483delinsPro | |
| NM_005228.4:c.2238_2248delinsGC | NP_005219.2:p.Leu747_Ala750delinsPro | |
| NM_005228.5:c.2238_2248delinsGC MANE Select | NP_005219.2:p.Leu747_Ala750delinsPro | |
| NM_001346897.2:c.2103_2113delinsGC | NP_001333826.1:p.Leu702_Ala705delinsPro | |
| NM_001346898.2:c.2238_2248delinsGC | NP_001333827.1:p.Leu747_Ala750delinsPro | |
| NM_001346900.2:c.2079_2089delinsGC | NP_001333829.1:p.Leu694_Ala697delinsPro | |
| NM_001346941.2:c.1437_1447delinsGC | NP_001333870.1:p.Leu480_Ala483delinsPro | |
| NM_001346899.2:c.2103_2113delinsGC | NP_001333828.1:p.Leu702_Ala705delinsPro |