Linked Data
dbSNP Id:
rs1568489189
MyVariant Identifiers:
chr19:g.7211946_7211947insGTTTCCCAAGTCACAGACTCAGACTCTGGGGTGGATAATTCCCCCATCACTGTTACCTTAAAGTAGGGTTTCTTAGCCTCAGGACTGGTGGTATTCAGAGTCGGATCTTCATCTGGGGTGGGGCT (hg19)
chr19:g.7211935_7211936insGTTTCCCAAGTCACAGACTCAGACTCTGGGGTGGATAATTCCCCCATCACTGTTACCTTAAAGTAGGGTTTCTTAGCCTCAGGACTGGTGGTATTCAGAGTCGGATCTTCATCTGGGGTGGGGCT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7211990_7211991insCCTTAAAGTAGGGTTTCTTAGCCTCAGGACTGGTGGTATTCAGAGTCGGATCTTCATCTGGGGTGGGGCTGTTTCCCAAGTCACAGACTCAGACTCTGGGGTGGATAATTCCCCCATCACTGTTA , CM000681.2:g.7211990_7211991insCCTTAAAGTAGGGTTTCTTAGCCTCAGGACTGGTGGTATTCAGAGTCGGATCTTCATCTGGGGTGGGGCTGTTTCCCAAGTCACAGACTCAGACTCTGGGGTGGATAATTCCCCCATCACTGTTA | GRCh38 |
| NC_000019.9:g.7212001_7212002insCCTTAAAGTAGGGTTTCTTAGCCTCAGGACTGGTGGTATTCAGAGTCGGATCTTCATCTGGGGTGGGGCTGTTTCCCAAGTCACAGACTCAGACTCTGGGGTGGATAATTCCCCCATCACTGTTA , CM000681.1:g.7212001_7212002insCCTTAAAGTAGGGTTTCTTAGCCTCAGGACTGGTGGTATTCAGAGTCGGATCTTCATCTGGGGTGGGGCTGTTTCCCAAGTCACAGACTCAGACTCTGGGGTGGATAATTCCCCCATCACTGTTA | GRCh37 |
| NC_000019.8:g.7163001_7163002insCCTTAAAGTAGGGTTTCTTAGCCTCAGGACTGGTGGTATTCAGAGTCGGATCTTCATCTGGGGTGGGGCTGTTTCCCAAGTCACAGACTCAGACTCTGGGGTGGATAATTCCCCCATCACTGTTA | NCBI36 |
| NG_008852.2:g.87065_87066insAGCCCCACCCCAGATGAAGATCCGACTCTGAATACCACCAGTCCTGAGGCTAAGAAACCCTACTTTAAGGTAACAGTGATGGGGGAATTATCCACCCCAGAGTCTGAGTCTGTGACTTGGGAAAC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302850.10:c.653-27299_653-27298insAGCCCCACCCCAGATGAAGATCCGACTCTGAATACCACCAGTCCTGAGGCTAAGAAACCCTACTTTAAGGTAACAGTGATGGGGGAATTATCCACCCCAGAGTCTGAGTCTGTGACTTGGGAAAC MANE Select | ENSP00000303830.4:n.653-27299_653-27298insAGCCCCACCCCAGATGAAG... | |
| ENST00000302850.9:c.653-27299_653-27298insAGCCCCACCCCAGATGAAGATCCGACTCTGAATACCACCAGTCCTGAGGCTAAGAAACCCTACTTTAAGGTAACAGTGATGGGGGAATTATCCACCCCAGAGTCTGAGTCTGTGACTTGGGAAAC | ENSP00000303830.4:n.653-27299_653-27298insAGCCCCACCCCAGATGAAG... | |
| ENST00000341500.9:c.653-27299_653-27298insAGCCCCACCCCAGATGAAGATCCGACTCTGAATACCACCAGTCCTGAGGCTAAGAAACCCTACTTTAAGGTAACAGTGATGGGGGAATTATCCACCCCAGAGTCTGAGTCTGTGACTTGGGAAAC | ENSP00000342838.4:n.653-27299_653-27298insAGCCCCACCCCAGATGAAG... | |
| ENST00000598216.1:n.628-27299_628-27298insAGCCCCACCCCAGATGAAGATCCGACTCTGAATACCACCAGTCCTGAGGCTAAGAAACCCTACTTTAAGGTAACAGTGATGGGGGAATTATCCACCCCAGAGTCTGAGTCTGTGACTTGGGAAAC | ||
| NM_000208.2:c.653-27299_653-27298insAGCCCCACCCCAGATGAAGATCCGACTCTGAATACCACCAGTCCTGAGGCTAAGAAACCCTACTTTAAGGTAACAGTGATGGGGGAATTATCCACCCCAGAGTCTGAGTCTGTGACTTGGGAAAC | NP_000199.2:n.653-27299_653-27298insAGCCCCACCCCAGATGAAGATCCGA... | |
| NM_000208.3:c.653-27299_653-27298insAGCCCCACCCCAGATGAAGATCCGACTCTGAATACCACCAGTCCTGAGGCTAAGAAACCCTACTTTAAGGTAACAGTGATGGGGGAATTATCCACCCCAGAGTCTGAGTCTGTGACTTGGGAAAC | NP_000199.2:n.653-27299_653-27298insAGCCCCACCCCAGATGAAGATCCGA... | |
| NM_001079817.1:c.653-27299_653-27298insAGCCCCACCCCAGATGAAGATCCGACTCTGAATACCACCAGTCCTGAGGCTAAGAAACCCTACTTTAAGGTAACAGTGATGGGGGAATTATCCACCCCAGAGTCTGAGTCTGTGACTTGGGAAAC | NP_001073285.1:n.653-27299_653-27298insAGCCCCACCCCAGATGAAGATC... | |
| NM_001079817.2:c.653-27299_653-27298insAGCCCCACCCCAGATGAAGATCCGACTCTGAATACCACCAGTCCTGAGGCTAAGAAACCCTACTTTAAGGTAACAGTGATGGGGGAATTATCCACCCCAGAGTCTGAGTCTGTGACTTGGGAAAC | NP_001073285.1:n.653-27299_653-27298insAGCCCCACCCCAGATGAAGATC... | |
| XM_011527988.1:c.731-27299_731-27298insAGCCCCACCCCAGATGAAGATCCGACTCTGAATACCACCAGTCCTGAGGCTAAGAAACCCTACTTTAAGGTAACAGTGATGGGGGAATTATCCACCCCAGAGTCTGAGTCTGTGACTTGGGAAAC | XP_011526290.1:n.731-27299_731-27298insAGCCCCACCCCAGATGAAGATC... | |
| XM_011527989.1:c.731-27299_731-27298insAGCCCCACCCCAGATGAAGATCCGACTCTGAATACCACCAGTCCTGAGGCTAAGAAACCCTACTTTAAGGTAACAGTGATGGGGGAATTATCCACCCCAGAGTCTGAGTCTGTGACTTGGGAAAC | XP_011526291.1:n.731-27299_731-27298insAGCCCCACCCCAGATGAAGATC... | |
| XM_011527988.2:c.653-27299_653-27298insAGCCCCACCCCAGATGAAGATCCGACTCTGAATACCACCAGTCCTGAGGCTAAGAAACCCTACTTTAAGGTAACAGTGATGGGGGAATTATCCACCCCAGAGTCTGAGTCTGTGACTTGGGAAAC | XP_011526290.2:n.653-27299_653-27298insAGCCCCACCCCAGATGAAGATC... | |
| XM_011527989.3:c.653-27299_653-27298insAGCCCCACCCCAGATGAAGATCCGACTCTGAATACCACCAGTCCTGAGGCTAAGAAACCCTACTTTAAGGTAACAGTGATGGGGGAATTATCCACCCCAGAGTCTGAGTCTGTGACTTGGGAAAC | XP_011526291.2:n.653-27299_653-27298insAGCCCCACCCCAGATGAAGATC... | |
| NM_000208.4:c.653-27299_653-27298insAGCCCCACCCCAGATGAAGATCCGACTCTGAATACCACCAGTCCTGAGGCTAAGAAACCCTACTTTAAGGTAACAGTGATGGGGGAATTATCCACCCCAGAGTCTGAGTCTGTGACTTGGGAAAC MANE Select | NP_000199.2:n.653-27299_653-27298insAGCCCCACCCCAGATGAAGATCCGA... | |
| NM_001079817.3:c.653-27299_653-27298insAGCCCCACCCCAGATGAAGATCCGACTCTGAATACCACCAGTCCTGAGGCTAAGAAACCCTACTTTAAGGTAACAGTGATGGGGGAATTATCCACCCCAGAGTCTGAGTCTGTGACTTGGGAAAC | NP_001073285.1:n.653-27299_653-27298insAGCCCCACCCCAGATGAAGATC... |