Linked Data
ClinVar Variation Id:
242346
dbSNP Id:
rs878855325
MyVariant Identifiers:
chr16:g.20360334_20360345delinsAGGAGGCGG (hg19)
chr16:g.20349012_20349023delinsAGGAGGCGG (hg38)
PubMed:
PMID:20301530
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.20349012_20349023delinsAGGAGGCGG , CM000678.2:g.20349012_20349023delinsAGGAGGCGG | GRCh38 |
| NC_000016.9:g.20360334_20360345delinsAGGAGGCGG , CM000678.1:g.20360334_20360345delinsAGGAGGCGG | GRCh37 |
| NC_000016.8:g.20267835_20267846delinsAGGAGGCGG | NCBI36 |
| NG_008151.1:g.8693_8704delinsCCGCCTCCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396138.9:c.278_289delinsCCGCCTCCT MANE Select | ENSP00000379442.5:p.Val93_Gly97delinsAlaAlaSerCys | |
| ENST00000577168.2:c.278_289delinsCCGCCTCCT | ENSP00000459738.2:p.Val93_Gly97delinsAlaAlaSerCys | |
| ENST00000302509.8:c.278_289delinsCCGCCTCCT | ENSP00000306279.4:p.Val93_Gly97delinsAlaAlaSerCys | |
| ENST00000396134.6:c.377_388delinsCCGCCTCCT | ENSP00000379438.2:p.Val126_Gly130delinsAlaAlaSerCys | |
| ENST00000396138.8:c.425_436delinsCCGCCTCCT | ENSP00000379442.4:p.Val142_Gly146delinsAlaAlaSerCys | |
| ENST00000570689.5:c.278_289delinsCCGCCTCCT | ENSP00000460548.1:p.Val93_Gly97delinsAlaAlaSerCys | |
| ENST00000571174.5:c.278_289delinsCCGCCTCCT | ENSP00000458939.1:p.Val93_Gly97delinsAlaAlaSerCys | |
| ENST00000573567.5:c.347_358delinsCCGCCTCCT | ENSP00000460374.1:p.Val116_Gly120delinsAlaAlaSerCys | |
| ENST00000574195.5:c.440_451delinsCCGCCTCCT | ENSP00000460845.1:p.Val147_Gly151delinsAlaAlaSerCys | |
| ENST00000576688.2:c.278_289delinsCCGCCTCCT | ENSP00000461641.1:p.Val93_Gly97delinsAlaAlaSerCys | |
| ENST00000577168.1:c.362_373delinsCCGCCTCCT | ENSP00000459738.1:p.Val121_Gly125delinsAlaAlaSerCys | |
| NM_001008389.2:c.278_289delinsCCGCCTCCT | NP_001008390.1:p.Val93_Gly97delinsAlaAlaSerCys | |
| NM_001278614.1:c.377_388delinsCCGCCTCCT | NP_001265543.1:p.Val126_Gly130delinsAlaAlaSerCys | |
| NM_003361.3:c.278_289delinsCCGCCTCCT | NP_003352.2:p.Val93_Gly97delinsAlaAlaSerCys | |
| XM_011545934.1:c.362_373delinsCCGCCTCCT | XP_011544236.1:p.Val121_Gly125delinsAlaAlaSerCys | |
| XM_011545935.1:c.278_289delinsCCGCCTCCT | XP_011544237.1:p.Val93_Gly97delinsAlaAlaSerCys | |
| XM_011545936.1:c.278_289delinsCCGCCTCCT | XP_011544238.1:p.Val93_Gly97delinsAlaAlaSerCys | |
| XM_011545937.1:c.278_289delinsCCGCCTCCT | XP_011544239.1:p.Val93_Gly97delinsAlaAlaSerCys | |
| XM_011545938.1:c.278_289delinsCCGCCTCCT | XP_011544240.1:p.Val93_Gly97delinsAlaAlaSerCys | |
| XM_011545939.1:c.362_373delinsCCGCCTCCT | XP_011544241.1:p.Val121_Gly125delinsAlaAlaSerCys | |
| XM_011545940.1:c.425_436delinsCCGCCTCCT | XP_011544242.1:p.Val142_Gly146delinsAlaAlaSerCys | |
| XM_011545934.2:c.278_289delinsCCGCCTCCT | XP_011544236.2:p.Val93_Gly97delinsAlaAlaSerCys | |
| XM_011545940.2:c.278_289delinsCCGCCTCCT | XP_011544242.2:p.Val93_Gly97delinsAlaAlaSerCys | |
| XM_024450433.1:c.278_289delinsCCGCCTCCT | XP_024306201.1:p.Val93_Gly97delinsAlaAlaSerCys | |
| NM_001008389.3:c.278_289delinsCCGCCTCCT | NP_001008390.1:p.Val93_Gly97delinsAlaAlaSerCys | |
| NM_001278614.2:c.377_388delinsCCGCCTCCT | NP_001265543.1:p.Val126_Gly130delinsAlaAlaSerCys | |
| NM_001378232.1:c.278_289delinsCCGCCTCCT | NP_001365161.1:p.Val93_Gly97delinsAlaAlaSerCys | |
| NM_001378233.1:c.278_289delinsCCGCCTCCT | NP_001365162.1:p.Val93_Gly97delinsAlaAlaSerCys | |
| NM_001378234.1:c.278_289delinsCCGCCTCCT | NP_001365163.1:p.Val93_Gly97delinsAlaAlaSerCys | |
| NM_001378235.1:c.278_289delinsCCGCCTCCT | NP_001365164.1:p.Val93_Gly97delinsAlaAlaSerCys | |
| NM_001378237.1:c.278_289delinsCCGCCTCCT | NP_001365166.1:p.Val93_Gly97delinsAlaAlaSerCys | |
| NM_003361.4:c.278_289delinsCCGCCTCCT MANE Select | NP_003352.2:p.Val93_Gly97delinsAlaAlaSerCys | |
| NR_165456.1:n.503_514delinsCCGCCTCCT |