Linked Data
ClinVar Variation Id:
846307
ClinVar RCV Id:
RCV001862794
dbSNP Id:
rs1474804613
gnomAD v2:
11-6636714-CACT-C
gnomAD v3:
11-6615483-CACT-C
gnomAD v4:
11-6615483-CACT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6615484_6615486del , CM000673.2:g.6615484_6615486del | GRCh38 |
| NC_000011.9:g.6636715_6636717del , CM000673.1:g.6636715_6636717del | GRCh37 |
| NC_000011.8:g.6593291_6593293del | NCBI36 |
| NG_008653.1:g.8976_8978del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682424.1:c.1108_1110del | ENSP00000507321.1:p.Ser370del | |
| ENST00000299427.12:c.1222_1224del MANE Select | ENSP00000299427.6:p.Ser408del | |
| ENST00000436873.7:c.459_461del | ||
| ENST00000524924.2:n.342_344del | ||
| ENST00000533371.6:c.493_495del | ENSP00000437066.1:p.Ser165del | |
| ENST00000642892.1:c.493_495del | ENSP00000494165.1:p.Ser165del | |
| ENST00000643342.1:c.295_297del | ||
| ENST00000643439.1:c.*962_*964del | ENSP00000495849.1:n.*962_*964del | |
| ENST00000643479.1:n.1408_1410del | ||
| ENST00000643516.1:c.731_733del | ||
| ENST00000644218.1:c.1033_1035del | ENSP00000493574.1:p.Ser345del | |
| ENST00000644683.1:c.*675_*677del | ENSP00000494085.1:n.*675_*677del | |
| ENST00000644810.1:c.943_945del | ENSP00000495895.1:p.Ser315del | |
| ENST00000644831.1:n.1398_1400del | ||
| ENST00000644933.1:c.*88_*90del | ENSP00000496133.1:n.*88_*90del | |
| ENST00000645285.1:c.*88_*90del | ENSP00000495058.1:n.*88_*90del | |
| ENST00000645331.1:n.2427_2429del | ||
| ENST00000645620.1:c.493_495del | ENSP00000493657.1:p.Ser165del | |
| ENST00000646691.1:n.997_999del | ||
| ENST00000646777.1:n.1555_1557del | ||
| ENST00000647016.1:n.1702_1704del | ||
| ENST00000647152.1:c.493_495del | ENSP00000495893.1:p.Ser165del | |
| ENST00000647209.1:c.*1091_*1093del | ENSP00000495558.1:n.*1091_*1093del | |
| ENST00000647346.1:n.2242_2244del | ||
| ENST00000299427.10:c.1222_1224del | ENSP00000299427.6:p.Ser408del | |
| ENST00000524924.1:n.177_179del | ||
| ENST00000532191.1:n.275_277del | ||
| ENST00000533371.5:c.493_495del | ENSP00000437066.1:p.Ser165del | |
| ENST00000611494.4:c.1222_1224del | ENSP00000484546.1:p.Ser408del | |
| NM_000391.3:c.1222_1224del | NP_000382.3:p.Ser408del | |
| NM_000391.4:c.1222_1224del MANE Select | NP_000382.3:p.Ser408del |