Linked Data
dbSNP Id:
rs1853702016
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.55812039_55812040insTCATTTGTGCTTAGCTCTTAGG , CM000673.2:g.55812039_55812040insTCATTTGTGCTTAGCTCTTAGG | GRCh38 |
| NC_000011.9:g.55579515_55579516insTCATTTGTGCTTAGCTCTTAGG , CM000673.1:g.55579515_55579516insTCATTTGTGCTTAGCTCTTAGG | GRCh37 |
| NC_000011.8:g.55336091_55336092insTCATTTGTGCTTAGCTCTTAGG | NCBI36 |
| NG_052620.1:g.5673_5674insTCATTTGTGCTTAGCTCTTAGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000625203.2:c.573_574insTCATTTGTGCTTAGCTCTTAGG MANE Select | ENSP00000485319.1:p.Ile192SerfsTer7 | |
| ENST00000333973.3:c.573_574insTCATTTGTGCTTAGCTCTTAGG | ENSP00000335529.2:p.Ile192SerfsTer7 | |
| ENST00000623450.1:c.573_574insTCATTTGTGCTTAGCTCTTAGG | ENSP00000485509.1:p.Ile192SerfsTer7 | |
| ENST00000625203.1:c.573_574insTCATTTGTGCTTAGCTCTTAGG | ENSP00000485319.1:p.Ile192SerfsTer7 | |
| NM_001004738.1:c.573_574insTCATTTGTGCTTAGCTCTTAGG | NP_001004738.1:p.Ile192SerfsTer7 | |
| NM_001004738.2:c.573_574insTCATTTGTGCTTAGCTCTTAGG MANE Select | NP_001004738.1:p.Ile192SerfsTer7 |