Linked Data
ClinVar Variation Id:
177822
ClinVar RCV Id:
RCV000154456
dbSNP Id:
rs727504339
MyVariant Identifiers:
chr7:g.55242469_55242487delinsA (hg19)
chr7:g.55174776_55174794delinsA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.55174776_55174794delinsA , CM000669.2:g.55174776_55174794delinsA | GRCh38 |
| NC_000007.13:g.55242469_55242487delinsA , CM000669.1:g.55242469_55242487delinsA | GRCh37 |
| NC_000007.12:g.55209963_55209981delinsA | NCBI36 |
| NG_007726.3:g.160745_160763delinsA , LRG_304:g.160745_160763delinsA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000450046.2:c.2080_2098delinsA | ENSP00000413354.2:p.Leu694_Pro700delinsTh... | |
| ENST00000700145.1:c.588_606delinsA | ||
| ENST00000275493.7:c.2239_2257delinsA MANE Select | ENSP00000275493.2:p.Leu747_Pro753delinsTh... | |
| ENST00000275493.6:c.2239_2257delinsA | ENSP00000275493.2:p.Leu747_Pro753delinsTh... | |
| ENST00000442591.5:c.*28+1848_*28+1866delinsA | ENSP00000410031.1:n.*28+1848_*28+1866deli... | |
| ENST00000454757.6:c.2104_2122delinsA | ENSP00000395243.3:p.Leu702_Pro708delinsTh... | |
| ENST00000455089.5:c.2104_2122delinsA | ENSP00000415559.1:p.Leu702_Pro708delinsTh... | |
| NM_005228.3:c.2239_2257delinsA , LRG_304t1:c.2239_2257delinsA | NP_005219.2:p.Leu747_Pro753delinsThr | |
| NM_001346897.1:c.2104_2122delinsA | NP_001333826.1:p.Leu702_Pro708delinsThr | |
| NM_001346898.1:c.2239_2257delinsA | NP_001333827.1:p.Leu747_Pro753delinsThr | |
| NM_001346899.1:c.2104_2122delinsA | NP_001333828.1:p.Leu702_Pro708delinsThr | |
| NM_001346900.1:c.2080_2098delinsA | NP_001333829.1:p.Leu694_Pro700delinsThr | |
| NM_001346941.1:c.1438_1456delinsA | NP_001333870.1:p.Leu480_Pro486delinsThr | |
| NM_005228.4:c.2239_2257delinsA | NP_005219.2:p.Leu747_Pro753delinsThr | |
| NM_005228.5:c.2239_2257delinsA MANE Select | NP_005219.2:p.Leu747_Pro753delinsThr | |
| NM_001346897.2:c.2104_2122delinsA | NP_001333826.1:p.Leu702_Pro708delinsThr | |
| NM_001346898.2:c.2239_2257delinsA | NP_001333827.1:p.Leu747_Pro753delinsThr | |
| NM_001346900.2:c.2080_2098delinsA | NP_001333829.1:p.Leu694_Pro700delinsThr | |
| NM_001346941.2:c.1438_1456delinsA | NP_001333870.1:p.Leu480_Pro486delinsThr | |
| NM_001346899.2:c.2104_2122delinsA | NP_001333828.1:p.Leu702_Pro708delinsThr |