Linked Data
ClinVar Variation Id:
1072719
ClinVar RCV Id:
RCV001385495
dbSNP Id:
rs1285151453
gnomAD v3:
1-197142635-TTC-T
gnomAD v4:
1-197142635-TTC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197142637_197142638del , CM000663.2:g.197142637_197142638del | GRCh38 |
| NC_000001.10:g.197111767_197111768del , CM000663.1:g.197111767_197111768del | GRCh37 |
| NC_000001.9:g.195378390_195378391del | NCBI36 |
| NG_015867.1:g.9058_9059del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367409.9:c.1615_1616del MANE Select | ENSP00000356379.4:p.Glu539ArgfsTer15 | |
| ENST00000679766.1:n.1832_1833del | ||
| ENST00000680265.1:c.1615_1616del | ENSP00000505384.1:p.Glu539ArgfsTer15 | |
| ENST00000680710.1:c.1615_1616del | ENSP00000506676.1:p.Glu539ArgfsTer15 | |
| ENST00000681879.1:c.1615_1616del | ENSP00000505363.1:p.Glu539ArgfsTer15 | |
| ENST00000294732.11:c.1615_1616del | ENSP00000294732.7:p.Glu539ArgfsTer15 | |
| ENST00000367409.8:c.1615_1616del | ENSP00000356379.4:p.Glu539ArgfsTer15 | |
| ENST00000612785.1:c.561+1054_561+1055del | ENSP00000479244.1:n.561+1054_561+1055del | |
| NM_001206846.1:c.1615_1616del | NP_001193775.1:p.Glu539ArgfsTer15 | |
| NM_018136.4:c.1615_1616del | NP_060606.3:p.Glu539ArgfsTer15 | |
| NM_018136.5:c.1615_1616del MANE Select | NP_060606.3:p.Glu539ArgfsTer15 | |
| NM_001206846.2:c.1615_1616del | NP_001193775.1:p.Glu539ArgfsTer15 |