Linked Data
ClinVar Variation Id:
284472
ClinVar RCV Id:
RCV000269268
dbSNP Id:
rs886042881
MyVariant Identifiers:
chr6:g.31827510_31827514delinsTTTGGC (hg19)
chr6:g.31859733_31859737delinsTTTGGC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31859733_31859737delinsTTTGGC , CM000668.2:g.31859733_31859737delinsTTTGGC | GRCh38 |
| NC_000006.11:g.31827510_31827514delinsTTTGGC , CM000668.1:g.31827510_31827514delinsTTTGGC | GRCh37 |
| NC_000006.10:g.31935489_31935493delinsTTTGGC | NCBI36 |
| NG_008201.1:g.8196_8200delinsGCCAAA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000375631.5:c.1230_1234delinsGCCAAA MANE Select | ENSP00000364782.4:p.Ser410ArgfsTer29 | |
| ENST00000677054.1:n.2569_2573delinsGCCAAA | ||
| ENST00000677512.1:n.1507_1511delinsGCCAAA | ||
| ENST00000678869.1:n.1818_1822delinsGCCAAA | ||
| ENST00000375631.4:c.1230_1234delinsGCCAAA | ENSP00000364782.4:p.Ser410ArgfsTer29 | |
| ENST00000480384.1:n.1529_1533delinsGCCAAA | ||
| ENST00000491768.5:c.*340_*344delinsGCCAAA | ENSP00000433127.1:n.*340_*344delinsGCCAAA... | |
| ENST00000495807.1:n.2538_2542delinsGCCAAA | ||
| NM_000434.3:c.1230_1234delinsGCCAAA | NP_000425.1:p.Ser410ArgfsTer29 | |
| NM_000434.4:c.1230_1234delinsGCCAAA MANE Select | NP_000425.1:p.Ser410ArgfsTer29 |