Linked Data
ClinVar Variation Id:
53323
ClinVar RCV Id:
RCV000577154
dbSNP Id:
rs397508254
PubMed:
PMID:18782298
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117587814_117587815insA , CM000669.2:g.117587814_117587815insA | GRCh38 |
| NC_000007.13:g.117227868_117227869insA , CM000669.1:g.117227868_117227869insA | GRCh37 |
| NC_000007.12:g.117015104_117015105insA | NCBI36 |
| NG_016465.4:g.127031_127032insA , LRG_663:g.127031_127032insA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647720.2:c.1660_1661insA | ENSP00000497673.2:p.Ala554AspfsTer14 | |
| ENST00000647978.2:c.*1374_*1375insA | ENSP00000497658.1:n.*1374_*1375insA | |
| ENST00000649781.2:c.1477_1478insA | ENSP00000497203.1:p.Ala493AspfsTer14 | |
| ENST00000685018.2:c.1660_1661insA | ENSP00000510194.2:p.Ala554AspfsTer14 | |
| ENST00000687278.2:c.1660_1661insA | ENSP00000509593.2:p.Ala554AspfsTer14 | |
| ENST00000699585.1:c.1660_1661insA | ENSP00000514456.1:p.Ala554AspfsTer14 | |
| ENST00000699598.1:c.1660_1661insA | ENSP00000514467.1:p.Ala554AspfsTer14 | |
| ENST00000699599.1:c.1660_1661insA | ENSP00000514468.1:p.Ala554AspfsTer14 | |
| ENST00000699600.1:c.1660_1661insA | ENSP00000514469.1:p.Ala554AspfsTer14 | |
| ENST00000699601.1:c.1660_1661insA | ENSP00000514470.1:p.Ala554AspfsTer17 | |
| ENST00000699602.1:c.1660_1661insA | ENSP00000514471.1:p.Ala554AspfsTer14 | |
| ENST00000699604.1:c.*1484_*1485insA | ENSP00000514472.1:n.*1484_*1485insA | |
| ENST00000699605.1:c.1234_1235insA | ENSP00000514473.1:p.Ala412AspfsTer14 | |
| ENST00000003084.11:c.1660_1661insA MANE Select | ENSP00000003084.6:p.Ala554AspfsTer14 | |
| ENST00000647978.1:c.*1374_*1375insA | ENSP00000497658.1:n.*1374_*1375insA | |
| ENST00000648260.1:c.1402-15012_1402-15011insA | ENSP00000497957.1:n.1402-15012_1402-15011... | |
| ENST00000649406.1:c.1477_1478insA | ENSP00000497965.1:p.Ala493AspfsTer14 | |
| ENST00000649781.1:c.1477_1478insA | ENSP00000497203.1:p.Ala493AspfsTer14 | |
| ENST00000003084.10:c.1660_1661insA | ENSP00000003084.6:p.Ala554AspfsTer14 | |
| ENST00000426809.5:c.1570_1571insA | ENSP00000389119.1:p.Ala524AspfsTer14 | |
| NM_000492.3:c.1660_1661insA , LRG_663t1:c.1660_1661insA | NP_000483.3:p.Ala554AspfsTer14 | |
| XM_011515751.1:c.1750_1751insA | XP_011514053.1:p.Ala584AspfsTer14 | |
| XM_011515752.1:c.1750_1751insA | XP_011514054.1:p.Ala584AspfsTer14 | |
| XM_011515753.1:c.1417_1418insA | XP_011514055.1:p.Ala473AspfsTer14 | |
| XM_011515754.1:c.1417_1418insA | XP_011514056.1:p.Ala473AspfsTer14 | |
| NM_000492.4:c.1660_1661insA MANE Select | NP_000483.3:p.Ala554AspfsTer14 |