Linked Data
ClinVar Variation Id:
217078
ClinVar RCV Id:
RCV000200913
MyVariant Identifiers:
chr17:g.29574080_29582914delinsTTTACTTAGGT (hg19)
chr17:g.31247062_31255896delinsTTTACTTAGGT (hg38)
PubMed:
PMID:26189818
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.31247062_31255896delinsTTTACTTAGGT , CM000679.2:g.31247062_31255896delinsTTTACTTAGGT | GRCh38 |
| NC_000017.10:g.29574080_29582914delinsTTTACTTAGGT , CM000679.1:g.29574080_29582914delinsTTTACTTAGGT | GRCh37 |
| NC_000017.9:g.26598206_26607040delinsTTTACTTAGGT | NCBI36 |
| NG_009018.1:g.157086_165920delinsTTTACTTAGGT , LRG_214:g.157086_165920delinsTTTACTTAGGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696138.1:c.4020-1922_4156-2448delinsTTTACTTAGGT | ||
| ENST00000696140.1:n.80+639_280-2448delinsTTTACTTAGGT | ||
| ENST00000687863.1:n.683-1922_819-2448delinsTTTACTTAGGT | ||
| ENST00000691014.1:c.4005-1922_4204-2448delinsTTTACTTAGGT | ||
| ENST00000358273.9:c.3975-1922_4174-2448delinsTTTACTTAGGT | ||
| ENST00000356175.7:c.3975-1922_4111-2448delinsTTTACTTAGGT | ||
| ENST00000358273.8:c.3975-1922_4174-2448delinsTTTACTTAGGT | ||
| ENST00000456735.6:c.2973-1922_3109-2448delinsTTTACTTAGGT | ||
| ENST00000466819.5:c.451-1922_650-1791delinsTTTACTTAGGT | ||
| ENST00000479614.1:c.451-1922_587-1791delinsTTTACTTAGGT | ||
| ENST00000493220.5:n.2511-1922_2647-2448delinsTTTACTTAGGT | ||
| ENST00000579081.5:c.4077-1922_4213-2448delinsTTTACTTAGGT | ||
| NM_000267.3:c.3975-1922_4111-2448delinsTTTACTTAGGT , LRG_214t1:c.3975-1922_4111-2448delinsTTTACTTAGGT | ||
| NM_001042492.2:c.3975-1922_4174-2448delinsTTTACTTAGGT , LRG_214t2:c.3975-1922_4174-2448delinsTTTACTTAGGT | ||
| XM_005257983.1:c.3975-1922_4174-2448delinsTTTACTTAGGT | ||
| XM_005257984.1:c.3975-1922_4111-2448delinsTTTACTTAGGT | ||
| XM_006721922.1:c.4005-1922_4204-2448delinsTTTACTTAGGT | ||
| XM_006721923.2:c.3966-1922_4165-2448delinsTTTACTTAGGT | ||
| XM_006721924.1:c.4005-1922_4204-2448delinsTTTACTTAGGT | ||
| XM_006721925.1:c.4005-1922_4141-2448delinsTTTACTTAGGT | ||
| XM_006721926.2:c.4005-1922_4204-2448delinsTTTACTTAGGT | ||
| XM_006721927.1:c.4005-1922_4204-2448delinsTTTACTTAGGT | ||
| XM_006721928.2:c.4005-1922_4204-2448delinsTTTACTTAGGT | ||
| XM_011524852.1:c.4002-1922_4201-2448delinsTTTACTTAGGT | ||
| XM_011524853.1:c.3966-1922_4165-2448delinsTTTACTTAGGT | ||
| XM_011524854.1:c.3966-1922_4165-2448delinsTTTACTTAGGT | ||
| XM_011524855.1:c.3966-1922_4165-2448delinsTTTACTTAGGT | ||
| XM_011524856.1:c.3966-1922_4165-2448delinsTTTACTTAGGT | ||
| XM_011524857.1:c.4005-1922_4204-2448delinsTTTACTTAGGT | ||
| NM_001042492.3:c.3975-1922_4174-2448delinsTTTACTTAGGT |