Linked Data
ClinVar Variation Id:
177971
ClinVar RCV Id:
RCV000154644
dbSNP Id:
rs727504428
MyVariant Identifiers:
chr7:g.55242462_55242482delinsAAAGTT (hg19)
chr7:g.55174769_55174789delinsAAAGTT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.55174769_55174789delinsAAAGTT , CM000669.2:g.55174769_55174789delinsAAAGTT | GRCh38 |
| NC_000007.13:g.55242462_55242482delinsAAAGTT , CM000669.1:g.55242462_55242482delinsAAAGTT | GRCh37 |
| NC_000007.12:g.55209956_55209976delinsAAAGTT | NCBI36 |
| NG_007726.3:g.160738_160758delinsAAAGTT , LRG_304:g.160738_160758delinsAAAGTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450046.2:c.2073_2093delinsAAAGTT | ENSP00000413354.2:p.Glu693_Thr698delinsLeu | |
| ENST00000700145.1:c.581_601delinsAAAGTT | ||
| ENST00000275493.7:c.2232_2252delinsAAAGTT MANE Select | ENSP00000275493.2:p.Glu746_Thr751delinsLeu | |
| ENST00000275493.6:c.2232_2252delinsAAAGTT | ENSP00000275493.2:p.Glu746_Thr751delinsLeu | |
| ENST00000442591.5:c.*28+1841_*28+1861delinsAAAGTT | ENSP00000410031.1:n.*28+1841_*28+1861delinsAAAGTT | |
| ENST00000454757.6:c.2097_2117delinsAAAGTT | ENSP00000395243.3:p.Glu701_Thr706delinsLeu | |
| ENST00000455089.5:c.2097_2117delinsAAAGTT | ENSP00000415559.1:p.Glu701_Thr706delinsLeu | |
| NM_005228.3:c.2232_2252delinsAAAGTT , LRG_304t1:c.2232_2252delinsAAAGTT | NP_005219.2:p.Glu746_Thr751delinsLeu | |
| NM_001346897.1:c.2097_2117delinsAAAGTT | NP_001333826.1:p.Glu701_Thr706delinsLeu | |
| NM_001346898.1:c.2232_2252delinsAAAGTT | NP_001333827.1:p.Glu746_Thr751delinsLeu | |
| NM_001346899.1:c.2097_2117delinsAAAGTT | NP_001333828.1:p.Glu701_Thr706delinsLeu | |
| NM_001346900.1:c.2073_2093delinsAAAGTT | NP_001333829.1:p.Glu693_Thr698delinsLeu | |
| NM_001346941.1:c.1431_1451delinsAAAGTT | NP_001333870.1:p.Glu479_Thr484delinsLeu | |
| NM_005228.4:c.2232_2252delinsAAAGTT | NP_005219.2:p.Glu746_Thr751delinsLeu | |
| NM_005228.5:c.2232_2252delinsAAAGTT MANE Select | NP_005219.2:p.Glu746_Thr751delinsLeu | |
| NM_001346897.2:c.2097_2117delinsAAAGTT | NP_001333826.1:p.Glu701_Thr706delinsLeu | |
| NM_001346898.2:c.2232_2252delinsAAAGTT | NP_001333827.1:p.Glu746_Thr751delinsLeu | |
| NM_001346900.2:c.2073_2093delinsAAAGTT | NP_001333829.1:p.Glu693_Thr698delinsLeu | |
| NM_001346941.2:c.1431_1451delinsAAAGTT | NP_001333870.1:p.Glu479_Thr484delinsLeu | |
| NM_001346899.2:c.2097_2117delinsAAAGTT | NP_001333828.1:p.Glu701_Thr706delinsLeu |