Linked Data
ClinVar Variation Id:
376262
ClinVar RCV Id:
RCV000443639
dbSNP Id:
rs1057519842
PubMed:
PMID:25157968
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.68295306_68295308del , CM000667.2:g.68295306_68295308del | GRCh38 |
| NC_000005.9:g.67591134_67591136del , CM000667.1:g.67591134_67591136del | GRCh37 |
| NC_000005.8:g.67626890_67626892del | NCBI36 |
| NG_012849.2:g.84551_84553del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000320694.13:c.827_829del | ENSP00000323512.8:p.Thr276del | |
| ENST00000336483.10:c.917_919del | ENSP00000338554.5:p.Thr306del | |
| ENST00000517643.2:c.1727_1729del | ENSP00000513333.1:p.Thr576del | |
| ENST00000517698.6:c.*697_*699del | ENSP00000430424.1:n.*697_*699del | |
| ENST00000521657.6:c.1727_1729del | ENSP00000429277.1:p.Thr576del | |
| ENST00000522084.6:c.917_919del | ENSP00000429766.2:p.Thr306del | |
| ENST00000697457.1:c.1652_1654del | ENSP00000513315.1:p.Thr551del | |
| ENST00000697458.1:c.1727_1729del | ENSP00000513316.1:p.Thr576del | |
| ENST00000697460.1:c.1202_1204del | ENSP00000513318.1:p.Thr401del | |
| ENST00000697461.1:c.1727_1729del | ENSP00000513319.1:p.Thr576del | |
| ENST00000697462.1:c.917_919del | ENSP00000513320.1:p.Thr306del | |
| ENST00000697463.1:n.1368_1370del | ||
| ENST00000697464.1:c.*693_*695del | ENSP00000513322.1:n.*693_*695del | |
| ENST00000697465.1:c.764_766del | ENSP00000513323.1:p.Thr255del | |
| ENST00000697466.1:c.734_736del | ENSP00000513324.1:p.Thr245del | |
| ENST00000697467.1:c.638_640del | ENSP00000513325.1:p.Thr213del | |
| ENST00000697468.1:c.710_712del | ENSP00000513326.1:p.Thr237del | |
| ENST00000697469.1:c.419_421del | ENSP00000513327.1:p.Thr140del | |
| ENST00000697470.1:c.323_325del | ENSP00000513328.1:p.Thr108del | |
| ENST00000697557.1:c.710_712del | ENSP00000513335.1:p.Thr237del | |
| ENST00000521381.6:c.1727_1729del MANE Select | ENSP00000428056.1:p.Thr576del | |
| ENST00000320694.12:c.827_829del | ENSP00000323512.8:p.Thr276del | |
| ENST00000336483.9:c.917_919del | ENSP00000338554.5:p.Thr306del | |
| ENST00000517698.5:c.*697_*699del | ENSP00000430424.1:n.*697_*699del | |
| ENST00000518813.5:n.2270_2272del | ||
| ENST00000520550.1:n.1126_1128del | ||
| ENST00000521381.5:c.1727_1729del | ENSP00000428056.1:p.Thr576del | |
| ENST00000521657.5:c.1727_1729del | ENSP00000429277.1:p.Thr576del | |
| ENST00000523872.1:c.638_640del | ENSP00000430098.1:p.Thr213del | |
| NM_001242466.1:c.638_640del | NP_001229395.1:p.Thr213del | |
| NM_181504.3:c.917_919del | NP_852556.2:p.Thr306del | |
| NM_181523.2:c.1727_1729del | NP_852664.1:p.Thr576del | |
| NM_181524.1:c.827_829del | NP_852665.1:p.Thr276del | |
| XM_005248542.2:c.1727_1729del | XP_005248599.1:p.Thr576del | |
| XM_011543493.1:c.1400_1402del | XP_011541795.1:p.Thr467del | |
| XM_005248542.3:c.1727_1729del | XP_005248599.1:p.Thr576del | |
| XM_011543493.3:c.1400_1402del | XP_011541795.1:p.Thr467del | |
| XM_017009585.2:c.1727_1729del | XP_016865074.1:p.Thr576del | |
| XM_017009586.1:c.1454_1456del | XP_016865075.1:p.Thr485del | |
| NM_181523.3:c.1727_1729del MANE Select | NP_852664.1:p.Thr576del | |
| NM_001242466.2:c.638_640del | NP_001229395.1:p.Thr213del | |
| NM_181504.4:c.917_919del | NP_852556.2:p.Thr306del | |
| NM_181524.2:c.827_829del | NP_852665.1:p.Thr276del |