Linked Data
ClinVar Variation Id:
1310
ClinVar RCV Id:
RCV000001373
dbSNP Id:
rs869320617
MyVariant Identifiers:
chr20:g.3209663_3209673delinsCCGGCCGGCC (hg19)
chr20:g.3229017_3229027delinsCCGGCCGGCC (hg38)
PubMed:
PMID:18024964
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.3229017_3229027delinsCCGGCCGGCC , CM000682.2:g.3229017_3229027delinsCCGGCCGGCC | GRCh38 |
| NC_000020.10:g.3209663_3209673delinsCCGGCCGGCC , CM000682.1:g.3209663_3209673delinsCCGGCCGGCC | GRCh37 |
| NC_000020.9:g.3157663_3157673delinsCCGGCCGGCC | NCBI36 |
| NG_017072.1:g.15215_15225delinsGGCCGGCCGG | |
| NG_012093.2:g.25151_25161delinsCCGGCCGGCC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000642402.1:c.2019-16_2019-6delinsGGCCGGCCGG MANE Select | ENSP00000493503.1:n.2019-16_2019-6delinsG... | |
| ENST00000644011.1:c.1950-16_1950-6delinsGGCCGGCCGG | ENSP00000496214.1:n.1950-16_1950-6delinsG... | |
| ENST00000644692.1:c.1890-16_1890-6delinsGGCCGGCCGG | ENSP00000493824.1:n.1890-16_1890-6delinsG... | |
| ENST00000647296.1:c.1905-16_1905-6delinsGGCCGGCCGG | ENSP00000495050.1:n.1905-16_1905-6delinsG... | |
| ENST00000380056.7:c.2067-16_2067-6delinsGGCCGGCCGG | ENSP00000369396.3:n.2067-16_2067-6delinsG... | |
| ENST00000380059.7:c.2148-16_2148-6delinsGGCCGGCCGG | ENSP00000369399.3:n.2148-16_2148-6delinsG... | |
| ENST00000474451.5:c.*167-16_*167-6delinsGGCCGGCCGG | ENSP00000476859.1:n.*167-16_*167-6delinsG... | |
| ENST00000488544.1:n.612-16_612-6delinsGGCCGGCCGG | ||
| ENST00000539553.6:c.2019-16_2019-6delinsGGCCGGCCGG | ENSP00000441370.1:n.2019-16_2019-6delinsG... | |
| NM_001174089.1:c.2019-16_2019-6delinsGGCCGGCCGG | NP_001167560.1:n.2019-16_2019-6delinsGGCC... | |
| NM_001174090.1:c.2148-16_2148-6delinsGGCCGGCCGG | NP_001167561.1:n.2148-16_2148-6delinsGGCC... | |
| NM_032034.3:c.2067-16_2067-6delinsGGCCGGCCGG | NP_114423.1:n.2067-16_2067-6delinsGGCCGGC... | |
| XM_005260856.3:c.2388-16_2388-6delinsGGCCGGCCGG | XP_005260913.1:n.2388-16_2388-6delinsGGCC... | |
| XM_005260857.1:c.1962-16_1962-6delinsGGCCGGCCGG | XP_005260914.1:n.1962-16_1962-6delinsGGCC... | |
| XM_011529383.1:c.1986-16_1986-6delinsGGCCGGCCGG | XP_011527685.1:n.1986-16_1986-6delinsGGCC... | |
| XM_011529384.1:c.1962-16_1962-6delinsGGCCGGCCGG | XP_011527686.1:n.1962-16_1962-6delinsGGCC... | |
| XM_011529385.1:c.1962-16_1962-6delinsGGCCGGCCGG | XP_011527687.1:n.1962-16_1962-6delinsGGCC... | |
| XR_937167.1:n.2117-16_2117-6delinsGGCCGGCCGG | ||
| NM_001363745.1:c.1905-16_1905-6delinsGGCCGGCCGG | NP_001350674.1:n.1905-16_1905-6delinsGGCC... | |
| NR_135000.1:n.2117-16_2117-6delinsGGCCGGCCGG | ||
| XM_005260856.5:c.2388-16_2388-6delinsGGCCGGCCGG | XP_005260913.1:n.2388-16_2388-6delinsGGCC... | |
| XM_011529383.3:c.1986-16_1986-6delinsGGCCGGCCGG | XP_011527685.1:n.1986-16_1986-6delinsGGCC... | |
| XM_017028093.1:c.2382-16_2382-6delinsGGCCGGCCGG | XP_016883582.1:n.2382-16_2382-6delinsGGCC... | |
| XM_017028094.1:c.1962-16_1962-6delinsGGCCGGCCGG | XP_016883583.1:n.1962-16_1962-6delinsGGCC... | |
| XM_017028096.1:c.1962-16_1962-6delinsGGCCGGCCGG | XP_016883585.1:n.1962-16_1962-6delinsGGCC... | |
| XR_001754419.1:n.2562-16_2562-6delinsGGCCGGCCGG | ||
| XR_001754420.2:n.2542-16_2542-6delinsGGCCGGCCGG | ||
| NM_001174089.2:c.2019-16_2019-6delinsGGCCGGCCGG MANE Select | NP_001167560.1:n.2019-16_2019-6delinsGGCC... | |
| NM_001363745.2:c.1905-16_1905-6delinsGGCCGGCCGG | NP_001350674.1:n.1905-16_1905-6delinsGGCC... | |
| NM_001174090.2:c.2148-16_2148-6delinsGGCCGGCCGG | NP_001167561.1:n.2148-16_2148-6delinsGGCC... | |
| NM_032034.4:c.2067-16_2067-6delinsGGCCGGCCGG | NP_114423.1:n.2067-16_2067-6delinsGGCCGGC... | |
| NM_001400277.1:c.1962-16_1962-6delinsGGCCGGCCGG | NP_001387206.1:n.1962-16_1962-6delinsGGCC... | |
| NM_001400278.1:c.1962-16_1962-6delinsGGCCGGCCGG | NP_001387207.1:n.1962-16_1962-6delinsGGCC... | |
| NM_001400279.1:c.1962-16_1962-6delinsGGCCGGCCGG | NP_001387208.1:n.1962-16_1962-6delinsGGCC... | |
| NM_001400280.1:c.2034-16_2034-6delinsGGCCGGCCGG | NP_001387209.1:n.2034-16_2034-6delinsGGCC... | |
| NR_174470.1:n.2542-16_2542-6delinsGGCCGGCCGG | ||
| NR_174471.1:n.2527-16_2527-6delinsGGCCGGCCGG |