Linked Data
ClinVar Variation Id:
333000
ClinVar RCV Id:
RCV000275382
dbSNP Id:
rs886055316
MyVariant Identifiers:
chr2:g.182402790delinsAGAAAAATCA (hg19)
chr2:g.181538063delinsAGAAAAATCA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.181538063delinsAGAAAAATCA , CM000664.2:g.181538063delinsAGAAAAATCA | GRCh38 |
| NC_000002.11:g.182402790delinsAGAAAAATCA , CM000664.1:g.182402790delinsAGAAAAATCA | GRCh37 |
| NC_000002.10:g.182111035delinsAGAAAAATCA | NCBI36 |
| NG_021178.1:g.124045delinsTGATTTTTCT | |
| NG_050623.1:g.86172delinsAGAAAAATCA | |
| NG_021178.2:g.124045delinsTGATTTTTCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684145.1:c.*121delinsTGATTTTTCT (CERKL) | ENSP00000508396.1:n.*121delinsTGATTTTTCT | |
| ENST00000397033.7:c.*2536delinsAGAAAAATCA (ITGA4) MANE Select | ENSP00000380227.2:n.*2536delinsAGAAAAATCA | |
| ENST00000410087.8:c.*121delinsTGATTTTTCT (CERKL) MANE Select | ENSP00000386725.3:n.*121delinsTGATTTTTCT | |
| ENST00000409440.7:c.*121delinsTGATTTTTCT (CERKL) | ENSP00000387080.3:n.*121delinsTGATTTTTCT | |
| ENST00000410087.7:c.*121delinsTGATTTTTCT (CERKL) | ENSP00000386725.3:n.*121delinsTGATTTTTCT | |
| NM_000885.5:c.*2536delinsAGAAAAATCA (ITGA4) | NP_000876.3:n.*2536delinsAGAAAAATCA | |
| NM_001030311.2:c.*121delinsTGATTTTTCT (CERKL) | NP_001025482.1:n.*121delinsTGATTTTTCT | |
| NM_001030312.2:c.*121delinsTGATTTTTCT (CERKL) | NP_001025483.1:n.*121delinsTGATTTTTCT | |
| NM_001030313.2:c.*121delinsTGATTTTTCT (CERKL) | NP_001025484.1:n.*121delinsTGATTTTTCT | |
| NM_001160277.1:c.*121delinsTGATTTTTCT (CERKL) | NP_001153749.1:n.*121delinsTGATTTTTCT | |
| NM_201548.4:c.*121delinsTGATTTTTCT (CERKL) | NP_963842.1:n.*121delinsTGATTTTTCT | |
| NR_027689.1:n.1625delinsTGATTTTTCT (CERKL) | ||
| NR_027690.1:n.1757delinsTGATTTTTCT (CERKL) | ||
| NM_000885.6:c.*2536delinsAGAAAAATCA (ITGA4) MANE Select | NP_000876.3:n.*2536delinsAGAAAAATCA | |
| NM_201548.5:c.*121delinsTGATTTTTCT (CERKL) MANE Select | NP_963842.1:n.*121delinsTGATTTTTCT | |
| NM_001030311.3:c.*121delinsTGATTTTTCT (CERKL) | NP_001025482.1:n.*121delinsTGATTTTTCT | |
| NM_001030312.3:c.*121delinsTGATTTTTCT (CERKL) | NP_001025483.1:n.*121delinsTGATTTTTCT | |
| NM_001030313.3:c.*121delinsTGATTTTTCT (CERKL) | NP_001025484.1:n.*121delinsTGATTTTTCT | |
| NM_001160277.2:c.*121delinsTGATTTTTCT (CERKL) | NP_001153749.1:n.*121delinsTGATTTTTCT | |
| NR_027689.2:n.1623delinsTGATTTTTCT (CERKL) | ||
| NR_027690.2:n.1755delinsTGATTTTTCT (CERKL) |