Linked Data
ClinVar Variation Id:
226425
ClinVar RCV Id:
RCV000211707
dbSNP Id:
rs879255601
MyVariant Identifiers:
chr6:g.24658800_24658801delinsTT (hg19)
chr6:g.24658572_24658573delinsTT (hg38)
PubMed:
PMID:24658003
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24658572_24658573delinsTT , CM000668.2:g.24658572_24658573delinsTT | GRCh38 |
| NC_000006.11:g.24658800_24658801delinsTT , CM000668.1:g.24658800_24658801delinsTT | GRCh37 |
| NC_000006.10:g.24766779_24766780delinsTT | NCBI36 |
| NG_052787.1:g.13315_13316delinsAA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378198.9:c.413_414delinsAA MANE Select | ENSP00000367440.4:p.Ser138Ter | |
| ENST00000341060.3:c.239_240delinsAA | ENSP00000345345.3:p.Ser80Ter | |
| ENST00000378198.8:c.413_414delinsAA | ENSP00000367440.4:p.Ser138Ter | |
| ENST00000478285.1:n.600_601delinsAA | ||
| ENST00000478507.1:n.320-5420_320-5419delinsAA | ||
| NM_016614.2:c.413_414delinsAA | NP_057698.2:p.Ser138Ter | |
| XR_926244.1:n.540_541delinsAA | ||
| NM_016614.3:c.413_414delinsAA MANE Select | NP_057698.2:p.Ser138Ter |