Linked Data
ClinVar Variation Id:
371197
ClinVar RCV Id:
RCV000410483
dbSNP Id:
rs1057517081
MyVariant Identifiers:
chr3:g.120352163_120352165delinsTA (hg19)
chr3:g.120633316_120633318delinsTA (hg38)
PubMed:
PMID:19862842
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.120633316_120633318delinsTA , CM000665.2:g.120633316_120633318delinsTA | GRCh38 |
| NC_000003.11:g.120352163_120352165delinsTA , CM000665.1:g.120352163_120352165delinsTA | GRCh37 |
| NC_000003.10:g.121834853_121834855delinsTA | NCBI36 |
| NG_011957.1:g.54164_54166delinsTA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000283871.10:c.1017_1019delinsTA MANE Select | ENSP00000283871.5:p.Met339IlefsTer30 | |
| ENST00000283871.9:c.1017_1019delinsTA | ENSP00000283871.5:p.Met339IlefsTer30 | |
| ENST00000470321.1:n.357_359delinsTA | ||
| ENST00000492108.5:c.296_298delinsTA | ENSP00000419838.1:n.[c.296_298delinsTA;Te... | |
| NM_000187.3:c.1017_1019delinsTA | NP_000178.2:p.Met339IlefsTer30 | |
| XM_005247412.1:c.792_794delinsTA | XP_005247469.1:p.Met264IlefsTer30 | |
| XM_005247412.2:c.792_794delinsTA | XP_005247469.1:p.Met264IlefsTer30 | |
| XM_017006277.2:c.594_596delinsTA | XP_016861766.1:p.Met198IlefsTer30 | |
| NM_000187.4:c.1017_1019delinsTA MANE Select | NP_000178.2:p.Met339IlefsTer30 |