Linked Data
ClinVar Variation Id:
376260
ClinVar RCV Id:
RCV000427072
dbSNP Id:
rs1057519840
PubMed:
PMID:25157968
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.68295257_68295274del , CM000667.2:g.68295257_68295274del | GRCh38 |
| NC_000005.9:g.67591085_67591102del , CM000667.1:g.67591085_67591102del | GRCh37 |
| NC_000005.8:g.67626841_67626858del | NCBI36 |
| NG_012849.2:g.84502_84519del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000320694.13:c.778_795del | ENSP00000323512.8:p.Asp260_Ser265del | |
| ENST00000336483.10:c.868_885del | ENSP00000338554.5:p.Asp290_Ser295del | |
| ENST00000517643.2:c.1678_1695del | ENSP00000513333.1:p.Asp560_Ser565del | |
| ENST00000517698.6:c.*648_*665del | ENSP00000430424.1:n.*648_*665del | |
| ENST00000521657.6:c.1678_1695del | ENSP00000429277.1:p.Asp560_Ser565del | |
| ENST00000522084.6:c.868_885del | ENSP00000429766.2:p.Asp290_Ser295del | |
| ENST00000697457.1:c.1603_1620del | ENSP00000513315.1:p.Asp535_Ser540del | |
| ENST00000697458.1:c.1678_1695del | ENSP00000513316.1:p.Asp560_Ser565del | |
| ENST00000697460.1:c.1153_1170del | ENSP00000513318.1:p.Asp385_Ser390del | |
| ENST00000697461.1:c.1678_1695del | ENSP00000513319.1:p.Asp560_Ser565del | |
| ENST00000697462.1:c.868_885del | ENSP00000513320.1:p.Asp290_Ser295del | |
| ENST00000697463.1:n.1319_1336del | ||
| ENST00000697464.1:c.*644_*661del | ENSP00000513322.1:n.*644_*661del | |
| ENST00000697465.1:c.715_732del | ENSP00000513323.1:p.Asp239_Ser244del | |
| ENST00000697466.1:c.685_702del | ENSP00000513324.1:p.Asp229_Ser234del | |
| ENST00000697467.1:c.589_606del | ENSP00000513325.1:p.Asp197_Ser202del | |
| ENST00000697468.1:c.661_678del | ENSP00000513326.1:p.Asp221_Ser226del | |
| ENST00000697469.1:c.370_387del | ENSP00000513327.1:p.Asp124_Ser129del | |
| ENST00000697470.1:c.274_291del | ENSP00000513328.1:p.Asp92_Ser97del | |
| ENST00000697557.1:c.661_678del | ENSP00000513335.1:p.Asp221_Ser226del | |
| ENST00000521381.6:c.1678_1695del MANE Select | ENSP00000428056.1:p.Asp560_Ser565del | |
| ENST00000320694.12:c.778_795del | ENSP00000323512.8:p.Asp260_Ser265del | |
| ENST00000336483.9:c.868_885del | ENSP00000338554.5:p.Asp290_Ser295del | |
| ENST00000517698.5:c.*648_*665del | ENSP00000430424.1:n.*648_*665del | |
| ENST00000518813.5:n.2221_2238del | ||
| ENST00000520550.1:n.1077_1094del | ||
| ENST00000521381.5:c.1678_1695del | ENSP00000428056.1:p.Asp560_Ser565del | |
| ENST00000521657.5:c.1678_1695del | ENSP00000429277.1:p.Asp560_Ser565del | |
| ENST00000523872.1:c.589_606del | ENSP00000430098.1:p.Asp197_Ser202del | |
| NM_001242466.1:c.589_606del | NP_001229395.1:p.Asp197_Ser202del | |
| NM_181504.3:c.868_885del | NP_852556.2:p.Asp290_Ser295del | |
| NM_181523.2:c.1678_1695del | NP_852664.1:p.Asp560_Ser565del | |
| NM_181524.1:c.778_795del | NP_852665.1:p.Asp260_Ser265del | |
| XM_005248542.2:c.1678_1695del | XP_005248599.1:p.Asp560_Ser565del | |
| XM_011543493.1:c.1351_1368del | XP_011541795.1:p.Asp451_Ser456del | |
| XM_005248542.3:c.1678_1695del | XP_005248599.1:p.Asp560_Ser565del | |
| XM_011543493.3:c.1351_1368del | XP_011541795.1:p.Asp451_Ser456del | |
| XM_017009585.2:c.1678_1695del | XP_016865074.1:p.Asp560_Ser565del | |
| XM_017009586.1:c.1405_1422del | XP_016865075.1:p.Asp469_Ser474del | |
| NM_181523.3:c.1678_1695del MANE Select | NP_852664.1:p.Asp560_Ser565del | |
| NM_001242466.2:c.589_606del | NP_001229395.1:p.Asp197_Ser202del | |
| NM_181504.4:c.868_885del | NP_852556.2:p.Asp290_Ser295del | |
| NM_181524.2:c.778_795del | NP_852665.1:p.Asp260_Ser265del |